GALC

galactosylceramidase

Summary

This gene encodes a lysosomal protein which hydrolyzes the galactose ester bonds of galactosylceramide, galactosylsphingosine, lactosylceramide, and monogalactosyldiglyceride. Mutations in this gene have been associated with Krabbe disease, also known as globoid cell leukodystrophy. Alternate transcriptional splice variants, encoding different isoforms, have been characterized. [provided by RefSeq, Jul 2008]

Known Variants1,014 total

rsidPosition (GRCh37)AllelesClassClinVar
rs155537706514:88,391,483C/T—uncertain significance
rs155537706614:88,391,496T/C—uncertain significance
rs123437220314:88,391,520G/A—uncertain significance
rs18893415314:88,399,451T/C—uncertain significance
rs57418902014:88,399,478C/T—uncertain significance
rs1719814:88,399,488A/C—benign
rs89369837614:88,399,492C/T—uncertain significance
rs75791890014:88,399,618A/G—uncertain significance
rs40556714:88,399,623T/C—benign
rs13891945814:88,399,625G/T—uncertain significance
rs104204214:88,399,801C/T—benign
rs104203514:88,399,950C/T—benign
rs126770732714:88,400,077A/G—uncertain significance
rs188445508414:88,400,082G/T—uncertain significance
rs37055914:88,400,087C/T—benign
rs18518174714:88,400,199A/T—uncertain significance
rs11417410314:88,400,275T/A—likely benign
rs41291514:88,400,353C/T—benign
rs4557213514:88,400,367G/T—benign
rs41375014:88,400,449T/C—benign
rs43294614:88,400,450G/A—benign
rs88605086314:88,400,485C/T—uncertain significance
rs104202914:88,400,486A/G—benign
rs122653112314:88,400,577A/G—uncertain significance
rs128000470814:88,400,590G/C—uncertain significance
rs188447613414:88,400,621T/C—uncertain significance
rs14383987914:88,400,671T/C—uncertain significance
rs385037614:88,400,681G/A—benign
rs188447980914:88,400,687C/A—uncertain significance
rs188448033114:88,400,701T/C—uncertain significance
rs188448065914:88,400,710T/C—uncertain significance
rs53961722214:88,400,713T/C—uncertain significance
rs14344457014:88,401,062T/C—uncertain significance
rs37264163614:88,401,064C/T—uncertain significance
rs250331569414:88,401,076T/G—uncertain significance
rs97057214414:88,401,077T/C—likely benign
rs140673172314:88,401,078A/G—pathogenic
rs98239493114:88,401,079G/A—likely benign
rs52946932514:88,401,080C/T—conflicting classifications of pathogenicity
rs75614181514:88,401,081G/T—uncertain significance
rs133423100614:88,401,084T/C—uncertain significance
rs90314971014:88,401,085G/T—likely benign
rs76874526214:88,401,092A/G—conflicting classifications of pathogenicity
rs20060702914:88,401,093C/T—conflicting classifications of pathogenicity
rs188449616414:88,401,094A/G—likely benign
rs20159626514:88,401,095A/G—uncertain significance
rs250331594914:88,401,097A/G—likely benign
rs77920261214:88,401,099A/G—uncertain significance
rs18386927914:88,401,100G/A—likely benign
rs250331601914:88,401,101T/C—uncertain significance
rs213992557014:88,401,103G/A—likely benign
rs250331604914:88,401,106A/G—likely benign
rs188449714714:88,401,109C/A—uncertain significance
rs77078584014:88,401,112T/C—likely benign
rs77667460514:88,401,120C/G—uncertain significance
rs213992560614:88,401,124G/A—likely benign
rs188449800714:88,401,127G/A—likely benign
rs159518356514:88,401,128T/C—uncertain significance
rs75951566314:88,401,131G/A—likely pathogenic
rs188449848014:88,401,132T/G—pathogenic
rs76990228014:88,401,133T/G—conflicting classifications of pathogenicity
rs250331625614:88,401,135C/T—uncertain significance
rs146138184414:88,401,137A/G—uncertain significance
rs76259330314:88,401,141C/T—uncertain significance
rs76358564414:88,401,142A/G—likely benign
rs106049976114:88,401,147A/Cmissense variantpathogenic
rs37609916314:88,401,154C/G—uncertain significance
rs76203433714:88,401,156T/A—likely pathogenic
rs250331663814:88,401,182C/T—likely pathogenic
rs124999148014:88,401,185A/G—conflicting classifications of pathogenicity
rs92488177514:88,401,187A/G—likely benign
rs115852119314:88,401,188G/A—uncertain significance
rs250331671614:88,401,190C/T—likely benign
rs188450185614:88,401,192T/A—conflicting classifications of pathogenicity
rs78059341914:88,401,200A/C—likely pathogenic
rs42126214:88,401,213T/Cmissense variantbenign
rs250331700714:88,401,220A/T—likely benign
rs116267166014:88,401,221C/A—likely pathogenic
rs76985127214:88,401,222C/T—uncertain significance
rs155537794714:88,401,223C/G—likely pathogenic
rs144824476014:88,401,226G/C—likely benign
rs37630280814:88,401,229T/C—likely benign
rs250331717114:88,401,241C/T—likely benign
rs43376414:88,401,392G/A—benign
rs39047414:88,401,442A/C—benign
rs43454114:88,401,443G/A—benign
rs7955804614:88,401,460A/G—benign
rs4562693814:88,406,120C/T—benign
rs4556744114:88,406,127G/C—benign
rs103861605514:88,406,229C/T—likely benign
rs37644538014:88,406,235T/C—likely benign
rs76851218914:88,406,238G/C—likely benign
rs213993759814:88,406,239C/T—likely benign
rs213993760314:88,406,240A/C—likely benign
rs131593894714:88,406,242T/C—likely benign
rs188476247114:88,406,245T/C—conflicting classifications of pathogenicity
rs77170664014:88,406,256G/T—uncertain significance
rs144629403614:88,406,258T/C—likely benign
rs13857766114:88,406,259A/G—pathogenic
rs37025989814:88,406,261C/T—likely benign

Showing 100 of 1,014 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.