Hedgehog Signaling Pathway Database
 
Human Mutations - Ptch2
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
MEDULLOBLASTOMA 1170     del2             9931336 "Smyth, I.; Narang, M. A.; Evans, T.; Heimann, C.; Nakamura, Y.; Chenevix-Trench, G.; Pietsch, T.; Wicking, C.; Wainwright, B. J. :
Isolation and characterization of human Patched 2 (PTCH2), a putative tumour suppressor gene in basal cell carcinoma and medulloblastoma on chromosome 1p32. Hum. Molec. Genet. 8: 291-297, 1999. "                        
BCC         E > Q 346 N   SWISS:VAR_018935   10029063  
BCC         E > Q 346 N   DBSNP:rs11573578      
BCC         E > K 493 N   SWISS:VAR_018936   10029063  
BCC         E > K 493 N   DBSNP:rs11573581      
BCC         H > Y 622 N   SWISS:VAR_018937   10029063  
BCC         H > Y 622 N   DBSNP:rs11573586      
BCC         T > M 988 N   SWISS:VAR_018938   10029063  
BCC         T > M 988 N   DBSNP:rs11573590      
BCC         V > M 1019 N   SWISS:VAR_018939   10029063  
BCC         V > M 1019 N   DBSNP:rs11573591      
BCC         I > M 1121 N   SWISS:VAR_018940   10029063  
BCC         I > M 1121 N   DBSNP:rs11573598      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
          L > L 253 S   DBSNP:rs12732662      
          V > V 360 S   DBSNP:rs11573579      
          V > V 502 S   DBSNP:rs11573582      
          A > A 531 S   DBSNP:rs11573585      
          E > E 607 S   DBSNP:rs2295997      
          A > A 685 S   DBSNP:rs7525308      
          D > D 709 S   DBSNP:rs11573587      
          Y > Y 785 S   DBSNP:rs11573588      
          D > D 829 S   DBSNP:rs2295996      
          G > G 1072 S   DBSNP:rs11573596      
Intronic 44957574 C T reverse           DBSNP:rs11573597      
Intronic 44957620 C G forward           DBSNP:rs3795719      
Intronic 44958323 C T reverse           DBSNP:rs11573595      
Intronic 44958362 A G reverse           DBSNP:rs11573594      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic 44958491 C T reverse           DBSNP:rs11573593      
Intronic 44958502 C G forward           DBSNP:rs7545808      
Intronic 44958679 C T reverse           DBSNP:rs11573592      
Intronic 44959185 A T forward           DBSNP:rs16832251      
Intronic 44960769 A C forward           DBSNP:rs12057534      
Intronic 44960801 G T forward           DBSNP:rs12408763      
Intronic 44961001 A G forward           DBSNP:rs11211040      
Intronic 44961576 A G reverse           DBSNP:rs11573589      
Intronic 44962150 A G forward           DBSNP:rs7532882      
Intronic 44963220 A G reverse           DBSNP:rs11573584      
Intronic 44963237 A G reverse           DBSNP:rs11573583      
Intronic 44963249 C T forward           DBSNP:rs2273940      
Intronic 44963444 A G reverse           DBSNP:rs11573580      
Intronic 44965370 A G forward           DBSNP:rs11584365      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic 44965845 C T forward           DBSNP:rs2295998      
Intronic 44966292 C G reverse           DBSNP:rs11573575      
Intronic 44966676 A G reverse           DBSNP:rs11573574      
Intronic 44966846 A C forward           DBSNP:rs2295999      
Intronic 44967151 C T reverse           DBSNP:rs11573572      
Intronic 44967319 C T reverse           DBSNP:rs11573571      
Intronic 44967345 A G reverse           DBSNP:rs11573570      
Intronic 44967425 A G reverse           DBSNP:rs11573569      
Intronic 44967631 C T reverse           DBSNP:rs11211041      
Intronic 44968143 C G forward           DBSNP:rs16832263      
Intronic 44968737 C T forward           DBSNP:rs12095412      
Intronic 44968941 A G forward           DBSNP:rs7527787      
Intronic 44969666 C G reverse           DBSNP:rs11211042      
Intronic 44969844 A C reverse           DBSNP:rs11573568      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic 44969950 C T forward           DBSNP:rs6429549      
Intronic 44970180 A G reverse           DBSNP:rs11573565      
Intronic 44970206 A G reverse           DBSNP:rs11573564      
Intronic 44970432 C G reverse           DBSNP:rs11573563      
Intronic 44970828 C T reverse           DBSNP:rs11573562      
Intronic 44970882 C T reverse           DBSNP:rs11573561      
Intronic 44970917 A G reverse           DBSNP:rs11573560      
Intronic 44971123 A G reverse           DBSNP:rs11573559      
Intronic 44971289 C T reverse           DBSNP:rs11573558      
Intronic 44971684 A C reverse           DBSNP:rs11573557      
Intronic 44972615 C T reverse           DBSNP:rs11211043      
Intronic 44972842 C T reverse           DBSNP:rs11573556      
Intronic 44973048 C T reverse           DBSNP:rs11573555      
Intronic 44973052 C G reverse           DBSNP:rs11573554      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic 44973358 C T reverse           DBSNP:rs11573552      
Intronic 44973459 C T reverse           DBSNP:rs11573550      
Intronic 44973499 C T forward           DBSNP:rs12729917      
Intronic 44973947 C G reverse           DBSNP:rs11573549      
Intronic 44974052 C T reverse           DBSNP:rs11573548      
Intronic 44974203 A G forward           DBSNP:rs7554177      
Intronic 44974253 C T reverse           DBSNP:rs11573547      
Intronic 44974487 A G reverse           DBSNP:rs11573545      
Intronic 44974533 A G reverse           DBSNP:rs11573544      
Intronic 44974585 C G reverse           DBSNP:rs11573543      
Intronic 44974599 C T reverse           DBSNP:rs11573542      
Intronic 44974611 C T reverse           DBSNP:rs11573541      
Intronic 44974665 A G reverse           DBSNP:rs11573540      
Intronic 44976152 A C forward           DBSNP:rs3117845      
Associated Disease Nucleotide Position WT > VAR Strand Mutation Type WT > VAR AA # Synonymous / Non-Synonymous Exon / Intron MutDB Position Id Ptch Mutation DB Listing NCBI Id Reference
Intronic 44976599 A G forward           DBSNP:rs3795720      
Intronic 44977044 A T forward           DBSNP:rs12750879      
Intronic 44977061 A T forward           DBSNP:rs12751020      
Intronic 44977194 C T reverse           DBSNP:rs11573538      
Intronic 44977502 A G forward           DBSNP:rs6696675      

Last updated 28-Aug-2006

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