Hedgehog Signaling Pathway Database
 
Human Mutations - Ptch1
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Medulloblastoma 318 C T     L > L 106 S E 2 DBSNP:rs1805153 Yes   Pietsch et al., Cancer Res 57:2085-2088, 1997 ; Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000 ; Pietsch et al., Cancer Res 57:2085-2088, 1997
Squamouse cell neoplasms 318 C T     L > L 106 S E 2 DBSNP:rs1805153 Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
BCC 378 G   delG Efs 127 N E 2   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 441 TG AT     G > X 148 N E 3   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 463 C T     P > S 155 N E 3   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 523 C T     L > F 175 N E 3   Yes   Johnson et al., Science 272:1668-1671, 1996
BCC         L > P 175 N   SWISS:VAR_007843   8658145  
          L > L 176 S   DBSNP:rs2066834      
BCC 528_529 AC TT     Q > X 177 N E 3   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 549 CC TT     Q > X 184 N E 3   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 550 C T     Q > X 184 N E 3   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 584 G A     R > K 195 N E 3   Yes   Gailani et al., Nature Genet 14:78-81, 1996 Nagao et al., Hum Mol Genet Oct 3 2005; Epub ahead of print.
BCC 584 G T     R > M 195 N E 3   Yes   Ratner et al., J Am Acad Dermatol 44:293-7, 2001
BCC 584G>A, 584IVS+1G>A G A     R > K 195 N E 3   Yes   Evans et al., Hum Mutat 16:43-48, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 707 G A     W > X 236 N E 5   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 709 G A     E > K 237 N E 5   Yes   Zang et al., Am J Pathol 158(2):381-385,Feb 2001
BCC 735 A G     T > T 245 S E 5   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Medulloblastoma 735 A G     T > T 245 S E 5   Yes   Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000
Squamouse cell neoplasms 735 A G     T > T 245 S E 5   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
BCC 754 C T     P > S 252 N E 5   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 768 G A     W > X 256 N E 6   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 758_776     del19 Dfs 260 N E 6   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 813_819     del7 Ifs 271 N E 6   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 863 G A     G > D 288 N E 6   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 864_871     del8 Yfs 291 N E 6   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 992 C T     S > F 331 N E 7   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 1047 C   delC Nfs 349 N E 7   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
          H  > H 358 S   DBSNP:rs2066832 Yes    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          L  > L 360 S   DBSNP:rs2066831 Yes    
Esophageal Squamous Cell Carcinoma 1081 C T     Q > X 361 N E 8   Yes   Maesawa et al., Genes Chromosomes Cancer 21:276-279, 1998
BCC 1082 A C     Q > P 361 N E 8   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 1085 C T     T > I 362 N E 8   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
Medulloblastoma 1085 C A     T > N 362 N E 8   Yes   Vorechovsky et al.,Oncogene 15:361-366, 1997
BCC 1092 CC TT     Q > X 365 N E 8   Yes   Hahn et al., Cell 85:841-851, 1996 ; Gailani et al., Nature Genet 14:78-81, 1996
BCC 1093 C T     Q > X 365 N E 8   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005 ; Zang et al., Am J Pathol 158(2):381-385, Feb 2001 ; Evans et al., Hum Mutat 16:43-48, 2000
BCC 1106 CC TT     P > L 369 N E 8   Yes   D'Errico et al., Oncogene 19:463-467, 2000
          Y > Y 373 S   DBSNP:rs2066839      
BCC         F > S 376 N   SWISS:VAR_007844   9620294  
Esophageal Squamous Cell Carcinoma 1137 C T     Y > Y 379 S E 8   Yes   Maesawa et al., Genes Chromosomes Cancer 21:276-279, 1998
BCC 1160 G A     W > X 387 N E 8   Yes   Evans et al., Hum Mutat 16:43-48, 2000
BCC 1161 G A     W > X 387 N E 8   Yes   Unden et al., Cancer Res 56:4562-4565, 1996
BCC 1196 G A     W > X 399 N E 8   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 1249 C T     Q > X 417 N E 9   Yes   Reifenberger et al., Cancer Res 58:1798-1803, 1998 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 1249 C T     Q > X 417 N E 9   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 1292 T A     L > Q 431 N E 9   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 1316 T C     V > A 439 N E 10   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 1396 C T     Q > X 466 N E 10   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 1433 C T     A > V 478 N E 10   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 1434_1437     del4 480fs 480 N E 10   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 1511 C A     P > Q 504 N E 11   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC         G > R 509 N   SWISS:VAR_010974   8840969  
BCC         G > V 509 N   SWISS:VAR_010975   8840969  
BCC         D > Y 513 N   SWISS:VAR_010976   8981943  
BCC 1547 T A     F > Y 516 N E 11   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 1641 C T     S > S 547 S E 12 DBSNP:rs2066830 Yes   Evans et al., Hum Mutat 16:43-48, 2000
BCC 1665 T C     N > N 555 S E 12 DBSNP:rs16909910 Yes   Evans et al., Hum Mutat 16:43-48, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 1673_1695     del23 Afs 558 N E 12   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 1686 C T     A > A 562 S E 12 DBSNP:rs2066836 Yes   D'Errico et al., Oncogene 19:463-467, 2000
Medulloblastoma 1686 C T     A > A 562 S E 12 DBSNP:rs2066836 Yes   Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000
Squamouse cell neoplasms 1686 C T     A > A 562 S E 12 DBSNP:rs2066836 Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
Squamouse cell neoplasms 1725 C T     L > L 575 S E 12   Yes   Ping et al., J Invest Dermatol 116:614-616, 2001
BCC 1726 C T     Q > X 576 N E 12   Yes   Ratner et al., J Am Acad Dermatol 44:293-7, 2001
Medulloblastoma 1804 C T     R > X 602 N E 13   Yes   Zurawel et al., Genes Chromosomes Cancer 27:44-51, 2000
BCC 1847 G A     S > N 616 N E 13   Yes   Zang et al., Am J Pathol 158(2):381-385,Feb 2001
BCC 1863_1864 AG   delAG Rfs 621 N E 14   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 1922 C T     P > L 641 N E 14   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 1977 G A     Q > Q 659 S E 14   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 1986 CC TT     Q > X 663 N E 14   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 1992 C T     L > L 664 N E 14   Yes   Ratner et al., J Am Acad Dermatol 44:293-7, 2001
BCC 1993 C G     R > G 665 N E 14   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 2004 C T     Y > Y 668 S E 14   Yes   Zang et al., Am J Pathol 158(2):381-385,Feb 2001
BCC 2008 C T     P > S 670 N E 14   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 2011 C T     H > Y 671 N E 14   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 2033 C T     T > I 678 N E 14   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 2042 C T     P > L 681 N E 14   Yes   Evans et al., Hum Mutat 16:43-48, 2000
Medulloblastoma 2049 C T     S > S 683 N E 14   Yes   Pietsch et al., Cancer Res 57:2085-2088, 1997
BCC 2062 C T     Q > X 688 N E 14   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 2072 C T     T > I 691 N E 14   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
Medulloblastoma 2080 C T     Q > X 694 N E 14   Yes   Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000
BCC 2105 C T     P > L 702 N E 14   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 2120 C T     S > F 707 N E 14   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 2146 T   delT Sfs 716 N E 14   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
CPNET 2173 C T     P > S 725 N E 14   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
BCC 2207 C T     A > V 736 N E 14   Yes   D'Errico et al., Oncogene 19:463-467, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 2287 G   delG Vfs 763 N E 15   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Medulloblastoma 2304 C T     T > T 768 S E 15 DBSNP:rs1805156 Yes   Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000
BCC 2307 CC TT     R > X 770 N E 15   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 2308 C T     R > X 770 N E 15   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 2321 G A     G > E 774 N E 15   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Squamouse cell neoplasms 2334 G A     T > T 778 S E 15   Yes   Ping et al., J Invest Dermatol 116:614-616, 2001
BCC 2364 T A     Y > X 788 N E 15   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC         I  > IPNI 815 N   SWISS:VAR_007845   8658145  
Esophageal Squamous Cell Carcinoma 2447 A T     Q > L 816 N E 15   Yes   Maesawa et al., Genes Chromosomes Cancer 21:276-279, 1998
Squamouse cell neoplasms 2485 G A     V > M 829 N E 15 SWISS:VAR_010978 Yes   Ping et al., J Invest Dermatol 116:614-616, 2001
BCC         V > M 829 N   SWISS:VAR_010978   11286632  
BCC 2489_2492dup       Y > X 831 N E 15   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
Medulloblastoma 2503 G T     E > X 835 N E 15   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
BCC 2560 G T     G > X 854 N E 15   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 2747 CC AT     P > H 916 N E 17   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
Odontogenic keratocyst 2760 C A     Y > X 920 N E 17   Yes   Barreto et al., J Dent Res 79(6):1418-22, Jun 2000
BCC 2778 GG AA     W > X 926 N E 17   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 2778 G A     W > X 926 N E 17   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 2778_2779 GG AA     W > X 926 N E 17   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 2791 C T     P > S 931 N E 17   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Breast Carcinoma 2863 T C     Y > H 955 N E 17   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
BCC 2867_2868 AT   del Mfs 956 N E 17   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 2891_2892     ins17 Afs 965 N E 18   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 2965 G T     E > X 989 N E 18   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Breast Carcinoma 2975 A G     E > G 992 N E 18   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
BCC 2985 G T     R > S 995 N E 18   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Meningioma 2990 T C     I > T 997 N E 18   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
BCC 3054 G A     W > X 1018 N E 18   Yes   Reifenberger et al., Cancer Res 58:1798-1803, 1998 Reifenberger et al., Br Jnl Dermatol 152: 43-51, 2005 ; Zang et al., Am J Pathol 158(2):381-385, Feb 2001
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Squamouse cell neoplasms 3152 GG AA     W > X 1051 N E 18   Yes   Ping et al., J Invest Dermatol 116:614-616, 2001
BCC 3196 G T     E > X 1066 N E 19   Yes   Aszterbaum et al., J Invest Dermatol 110:885-888, 1998
BCC 3196 G T     E > X 1066 N E 19   Yes   Zang et al., Am J Pathol 158(2):381-385,Feb 2001
BCC         G  > R 1069 N   SWISS:VAR_010979   8981943  
BCC 3236 G T     S > I 1079 N E 19   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Squamouse cell neoplasms 3240 C T     A > A 1080 S E 19   Yes   Ping et al., J Invest Dermatol 116:614-616, 2001
BCC         V > VV 1083 N   SWISS:VAR_007846   9620294  
BCC 3320 CC TT     A > V 1107 N E 20   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 3340 A T     R > W 1114 N E 20 SWISS:VAR_007847 Yes   Aszterbaum et al., J Invest Dermatol 110:885-888, 1998
BCC 3374 CC TT     P > L 1125 N E 20   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC         S > P 1132 N   SWISS:VAR_010980   11231326  
BCC         S > Y 1132 N   SWISS:VAR_010981   8840969  
Medulloblastoma 3417 G A     M > I 1139 N E 20   Yes   Vorechovsky et al.,Oncogene 15:361-366, 1997
BCC 3487 G A     G > S 1163 N E 21   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Odontogenic keratocyst 3499 G A     G > R 1167 N E 21   Yes   Barreto et al., J Dent Res 79(6):1418-22, Jun 2000
BCC 3499 G T     G > W 1167 N E 21   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 3583 A T     T > S 1195 N E 22 DBSNP:rs2236405 Yes   Wolter et al., Cancer Res 57:2581-2585, 1997 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Squamouse cell neoplasms 3583 A T     T > S 1195 N E 22 DBSNP:rs2236405 Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
BCC 3584 C T     T > I 1195 N E 22   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 3586 C T     P > S 1196 N E 22   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 3590 C T     S > F 1197 N E 22   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 3605 C T     P > L 1202 N E 22   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 3634 G A     G > S 1212 N E 22   Yes   Reifenberger et al., Cancer Res 58:1798-1803, 1998 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 3641 C T     T > M 1214 N E 22   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
SCC 3724 G A     E > K 1242 N E 22 SWISS:VAR_010982 Yes 11286632 Ping et al., J Invest Dermatol 116:614-616, 2001
BCC 3815 CC TT     P > L 1272 N E 23   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
          P > L 1282 N   DBSNP:rs16909873    
BCC 3915 C T     D > D 1305 S E 23   Yes   Evans et al., Hum Mutat 16:43-48, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 3944 T C     L > P 1315 N E 23   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997 ; Evans et al., Hum Mutat 16:43-48, 2000
BCC 3945 T C     L > L 1315 S E 23 DBSNP:rs357564 Yes   Gailani et al., Nature Genet 14:78-81, 1996
Odontogenic keratocyst 4314 G T     E > D 1438 N E 23 SWISS:VAR_010984 Yes   Lench et al., Hum Genet 100:497-502, 1997
BCC         E > D 1438 N   SWISS:VAR_010984   9341860  
Trichoepithelioma 3509, 3539     del26, delC (LW, delL-G, PT) (1170, del1171-1179, 1180) N E 21   Yes   Vorechovsky et al., Cancer Res 57:4677-4681, 1997
BCC 3378_3379 CC TT     V > V, L>L 1126, 1127 N E 20   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 879 CC TT     R > C 294C N E 6   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
Medulloblastoma 1503IVS+1G>A       L-Qdel 450-501del N I 10   Yes   Vorechovsky et al.,Oncogene 15:361-366, 1997
Medulloblastoma 1456     del6 delGL 486del N E 10   Yes   Pietsch et al., Cancer Res 57:2085-2088, 1997
BCC 2178 C   dupC Cfs C727 N E 14   Yes   Teh et al., Cancer Res 65 (19): 8597-8602, 2005
BCC 290 T   insT Undefined Undefined   E 2   Yes   Reifenberger et al., Cancer Res 58:1798-1803, 1998
Odontogenic keratocyst 518     del5 Undefined Undefined   E 3   Yes   Barreto et al., J Dent Res 79(6):1418-22, Jun 2000
Odontogenic keratocyst 705 C   insC Undefined Undefined   E 5   Yes   Lench et al., Hum Genet 100:497-502, 1997
BCC 712 A   insA Undefined Undefined   E 5   Yes   D'Errico et al., Oncogene 19:463-467, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 1062 T   insT Undefined Undefined   E 8   Yes   Evans et al., Hum Mutat 16:43-48, 2000
BCC 1062 CA   insCA Undefined Undefined   E 7   Yes   Unden et al., Cancer Res 56:4562-4565, 1996
Trichoepithelioma 1108     del4 Undefined Undefined   E 8   Yes   Vorechovsky et al., Cancer Res 57:4677-4681, 1997
BCC 1394 C   insC Undefined Undefined   E 10   Yes   Unden et al., Cancer Res 56:4562-4565, 1996
Medulloblastoma 1404     ins4 Undefined Undefined   E 10   Yes   Pietsch et al., Cancer Res 57:2085-2088, 1997
Medulloblastoma 1588 AG   delAG Undefined Undefined   E 11   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
BCC 1796     del4 Undefined Undefined   E 13   Yes   Evans et al., Hum Mutat 16:43-48, 2000
Medulloblastoma 1869 TC A     Undefined Undefined   E 14   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
BCC 1887 C   delC Undefined Undefined   E 14   Yes   Aszterbaum et al., J Invest Dermatol 110:885-888, 1998
BCC 2134     del11 Undefined Undefined   E 14   Yes   Bodak et al., Proc Natl Acad Sci USA 96:5117-5122, 1999
BCC 2386     del15 Undefined Undefined   E 15   Yes   Zang et al., Am J Pathol 158(2):381-385,Feb 2001
Medulloblastoma 2477     ins7 Undefined Undefined   E 15   Yes   Zurawel et al., Genes Chromosomes Cancer 27:44-51, 2000
BCC 2567 AG   delAG Undefined Undefined   E 16   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 2709 AT   insAT Undefined Undefined   E 17   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 2716     del14 Undefined Undefined   E 17   Yes   Hahn et al., Cell 85:841-851, 1996
Medulloblastoma 2796     ins7 Undefined Undefined   E 17   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
BCC 2803 T   insT Undefined Undefined   E 17   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 2846 G   insG Undefined Undefined   E 17   Yes   D'Errico et al., Oncogene 19:463-467, 2000
BCC 2873 A   delA Undefined Undefined   E 17   Yes   Reifenberger et al., Cancer Res 58:1798-1803, 1998 Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
BCC 2892 GG   delGG Undefined Undefined   E 18   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Medulloblastoma 2979 A   delA Undefined Undefined   E 18   Yes   Raffel et al., Cancer Res 57:842-845, 1997
Odontogenic keratocyst 3000     del8 Undefined Undefined   E 18   Yes   Lench et al., Hum Genet 100:497-502, 1997
Odontogenic keratocyst 3026 A   insA Undefined Undefined   E 18   Yes   Lench et al., Hum Genet 100:497-502, 1997
Medulloblastoma 3124     ins19 Undefined Undefined   E 18   Yes   Raffel et al., Cancer Res 57:842-845, 1997
Medulloblastoma 3124     ins28 Undefined Undefined   E 18   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
Medulloblastoma 3128     ins5 Undefined Undefined   E 18   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
Medulloblastoma 3158     ins27 Undefined Undefined   E 18   Yes   Raffel et al., Cancer Res 57:842-845, 1997
Medulloblastoma 3248     ins11 Undefined Undefined   E 19   Yes   Zurawel et al., Genes Chromosomes Cancer 27:44-51, 2000
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Medulloblastoma 3470 CG   delCG Undefined Undefined   E 21   Yes   Vorechovsky et al.,Oncogene 15:361-366, 1997
Odontogenic keratocyst 3550 G   delG Undefined Undefined   E 22   Yes   Lench et al., Hum Genet 100:497-502, 1997
BCC 3856     del12 Undefined Undefined   E 23   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC 1068IVS-2A>T       Undefined Undefined   I 7   Yes   Evans et al., Hum Mutat 16:43-48, 2000
BCC 1406_1407     ins13 Undefined Undefined   E 10   Yes   Kim et al., Jnl Dermatol Sci 29:1-9, 2002
BCC 1-4insCGG CGG   insCGG Undefined Undefined   I 0   Yes   Pastorino et al., Hum Mut. Mutation in Brief #788, 2005 Online
BCC 1503+99 C T     Undefined Undefined   I 10   Yes   Pastorino et al., Hum Mut. Mutation in Brief #788, 2005 Online
Squamouse cell neoplasms 1504IVS-51C>G       Undefined Undefined   I 10   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
Squamouse cell neoplasms 1504IVS-51C>G       Undefined Undefined   I 10   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
Squamouse cell neoplasms 1504IVS-51C>G       Undefined Undefined   I 10   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
Colon Carcinoma 1504IVS-8T>C       Undefined Undefined   I 10   Yes   Xie et al., Cancer Res 57:2369-2372, 1997
Squamouse cell neoplasms 1504IVS-8T>C       Undefined Undefined   I 10   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
BCC 1729IVS-1G>T       Undefined Undefined   I 12   Yes   Zang et al., Am J Pathol 158(2):381-385, Feb 2001
BCC 2250+1G>A       Undefined Undefined   I 14   Yes   Reifenberger et al., Br Jnl Dermatol 152:43-51, 2005
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
BCC 2560IVS+98C>G       Undefined Undefined   I 15   Yes   Evans et al., Hum Mutat 16:43-48, 2000
Squamouse cell neoplasms 2560IVS+9G>C       Undefined Undefined   I 15   Yes   Eklund et al., Mol Carcinog 21:87-92, 1998
Medulloblastoma 2887IVS+1G>A       Undefined Undefined   I 17   Yes   Dong et al., Hum Mutat:Mutation in Brief#339 Online, 2000
BCC 3306IVS+27delTT       Undefined Undefined   I 19   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Medulloblastoma 746IVS+2ins3       Undefined Undefined   I 5   Yes   Wolter et al., Cancer Res 57:2581-2585, 1997
BCC 857, 858 A G del4   A>G, del4 Undefined Undefined   E 6   Yes   Gailani et al., Nature Genet 14:78-81, 1996
BCC ins300     ins300 Undefined Undefined   E 6   Yes   Gailani et al., Nature Genet 14:78-81, 1996
Medulloblastoma TTTTTTACG/TTTTTGACG       Undefined Undefined   E 1   Yes   Dong et al., Hum Mutat:Mutation in Brief#339 online, 2000
untranslated 95286857 C G forward           DBSNP:rs16909865      
Intronic SNPs 95289297 A G forward           DBSNP:rs2236404      
Intronic SNPs 95290638 A G forward           DBSNP:rs676353      
Intronic SNPs 95292107 C T forward           DBSNP:rs16909875      
Intronic SNPs 95292163 C T forward           DBSNP:rs2282043      
Intronic SNPs 95293283 C G forward           DBSNP:rs9632916    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic SNPs 95294313 C T forward           DBSNP:rs9632898    
Intronic SNPs 95294719 A G forward           DBSNP:rs357566    
Intronic SNPs 95294861 A G reverse           DBSNP:rs2134721    
Intronic SNPs 95295523 C G forward           DBSNP:rs2274690    
Intronic SNPs 95296200 A G forward           DBSNP:rs16909877    
Intronic SNPs 95298821 A G forward           DBSNP:rs3780572    
Intronic SNPs 95301416 C T forward           DBSNP:rs2236406    
Intronic SNPs 95302135 A G forward           DBSNP:rs16909883    
Intronic SNPs 95302206 C T forward           DBSNP:rs3824487    
Intronic SNPs 95302220 C T forward           DBSNP:rs17368876    
Intronic SNPs 95303656 G T reverse           DBSNP:rs11575912    
Intronic SNPs 95303898 A G forward           DBSNP:rs2274691    
Intronic SNPs 95303915 C G forward           DBSNP:rs2274692    
Intronic SNPs 95304182 A G forward           DBSNP:rs16909887    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic SNPs 95305238 C T forward           DBSNP:rs16905572    
Intronic SNPs 95305621 C T reverse           DBSNP:rs867452    
Intronic SNPs 95306713 C T forward           DBSNP:rs16909889    
Intronic SNPs 95307365 G T forward           DBSNP:rs16909892    
Intronic SNPs 95308738 A G reverse           DBSNP:rs652525    
Intronic SNPs 95308852 A G forward           DBSNP:rs2274693    
Intronic SNPs 95308921 A G reverse           DBSNP:rs2066837    
Intronic SNPs 95308944 C G reverse           DBSNP:rs2066829    
Intronic SNPs 95310100 A G reverse           DBSNP:rs2036963    
Intronic SNPs 95310563 A G forward           DBSNP:rs16909898    
Intronic SNPs 95312511 A T reverse           DBSNP:rs481783    
Intronic SNPs 95315757 A G forward           DBSNP:rs16909902    
Intronic SNPs 95316219 C T forward           DBSNP:rs3824488    
Intronic SNPs 95316420 C T forward           DBSNP:rs16909904    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic SNPs 95317351 A G forward           DBSNP:rs2236407    
Intronic SNPs 95318415 C T forward           DBSNP:rs2277183    
Intronic SNPs 95318702 A G forward           DBSNP:rs2277184    
Intronic SNPs 95318745 C G reverse           DBSNP:rs574688    
Intronic SNPs 95319058 A G forward           DBSNP:rs3780573    
Intronic SNPs 95319338 C T reverse           DBSNP:rs2066838    
Intronic SNPs 95319675 A G forward           DBSNP:rs2297086    
Intronic SNPs 95320814 A G reverse           DBSNP:rs2066840    
Intronic SNPs 95321667 A G forward           DBSNP:rs2274694    
Intronic SNPs 95322480 A G forward           DBSNP:rs2297087    
Intronic SNPs 95322539 A G forward           DBSNP:rs2297088    
Intronic SNPs 95324103 C T reverse           DBSNP:rs2066833    
Intronic SNPs 95325529 A G forward           DBSNP:rs17369383    
Intronic SNPs 95325699 C T forward           DBSNP:rs3824490    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic SNPs 95327942 A G forward           DBSNP:rs2282041    
Intronic SNPs 95328190 A C forward           DBSNP:rs2282042    
Intronic SNPs 95331873 C T forward           DBSNP:rs7045468    
Intronic SNPs 95335790 A C reverse           DBSNP:rs473902    
Intronic SNPs 95335864 C T reverse           DBSNP:rs10512249    
Intronic SNPs 95339258 A C reverse           DBSNP:rs10512248    
Intronic SNPs 95345335 C T forward           DBSNP:rs16909919    
Intronic SNPs 95345456 A G forward           DBSNP:rs16909922    
Intronic SNPs 95345893 A C forward           DBSNP:rs3958435    
Intronic SNPs 95345898 A T forward           DBSNP:rs2897049    
Intronic SNPs 95345925 A G forward           DBSNP:rs4448343    
Intronic SNPs 95346022 C T reverse           DBSNP:rs4742842    
Intronic SNPs 95346077 C T reverse           DBSNP:rs4742841    
Intronic SNPs 95346106 C T reverse           DBSNP:rs4742840    
Associated Disease Nucleotide Position Wild Type > Variant Strand Mutation Type Wild Type > Variant Amino Acid # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic SNPs 95349139 G T reverse           DBSNP:rs1805157    
Intronic SNPs 95349723 C T reverse           DBSNP:rs1355620    
Intronic SNPs 95349726 C T reverse           DBSNP:rs1355619    
untranslated 95350249 C G reverse           DBSNP:rs1064303    

Last updated 28-Aug-2006

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