Hedgehog Signaling Pathway Database
 
Human Mutations - Gli4
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
          S > C 89 N   DBSNP:rs13264624      
          A > T 180 N   DBSNP:rs1056148      
          A > A 153 S   DBSNP:rs1056146      
          Q > Q 362 S   DBSNP:rs2977358      
intronic 144423389 C G forward           DBSNP:rs13257321      
intronic 144423413 G T forward           DBSNP:rs13280043      
intronic 144423418 A C forward           DBSNP:rs13257575      
intronic 144423429 A G forward           DBSNP:rs13264939      
intronic 144423436 A G forward           DBSNP:rs13264950      
intronic 144424039 A G forward           DBSNP:rs11136276      
intronic 144426649 C T forward           DBSNP:rs4386989      
intronic 144426794 G T forward           DBSNP:rs4455845      
intronic 144426854 A G forward           DBSNP:rs11136277      
intronic 144426975 C T forward           DBSNP:rs9657359      
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 144427331 A G forward           DBSNP:rs12680177      
intronic 144427415 A G forward           DBSNP:rs12677786      
intronic 144427417 A G forward           DBSNP:rs12677787      
intronic 144427432 A G forward           DBSNP:rs11136278      
intronic 144427807 C G forward           DBSNP:rs4545119      
intronic 144427817 C G forward           DBSNP:rs4487796      
intronic 144428588 C G reverse           DBSNP:rs3817675      
intronic 144428854 C G forward           DBSNP:rs3812433      
intronic 144429047 C T forward           DBSNP:rs3812434      
intronic 144429095 C T forward           DBSNP:rs3829017      
intronic 144429350 A G reverse           DBSNP:rs2293924      
intronic 144429367 C T reverse           DBSNP:rs2293923      
untranslated 144420984 G T reverse           DBSNP:rs752057      
untranslated 144421055 G T forward           DBSNP:rs13272174      
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
untranslated 144421285 A G forward           DBSNP:rs4977221      
untranslated 144422229 A G forward           DBSNP:rs1075645      
untranslated 144422279 A G forward           DBSNP:rs13282578      
untranslated 144422484 G T forward           DBSNP:rs4357304      

Last updated 28-Aug-2006

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