Hedgehog Signaling Pathway Database
 
Human Mutations - dhh
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
GONADAL DYSGENESIS         M > T 1         11017805 Umehara, F.; Tate, G.; Itoh, K.; Yamaguchi, N.; Douchi, T.; Mitsuya, T.; Osame, M. A novel mutation of desert hedgehog in a patient with 46,XY partial gonadal dysgenesis accompanied by minifascicular neuropathy. Am. J. Hum. Genet. 67: 1302-1305, 2000.
intronic 47770761 G T forward           DBSNP:rs12580339      
intronic 47771640 C G forward           DBSNP:rs11168854      
intronic 47772486 G T forward           DBSNP:rs2047102      
intronic 47773050 C T forward           DBSNP:rs12310622      
intronic 47773344 A C forward           DBSNP:rs11614504      
intronic 47774194 A G forward           DBSNP:rs11168855      
untranslated 47769538 A T forward           DBSNP:rs11168853      

Last updated 28-Aug-2006

home page | about Hedgehog | gene index

© Copyright 2006