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rs786204454

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
({{{allele1}}};{{{allele2}}})
(-;-) 6 Krabbe disease (likely)
(-;T) 3 carrier of one Krabbe disease allele
(T;T) 0 common in clinvar
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position87965583
GeneGALC
is asnp
is mentioned by
dbSNPrs786204454
ebirs786204454
HLIrs786204454
Exacrs786204454
Varsomers786204454
Maprs786204454
PheGenIrs786204454
hapmaprs786204454
1000 genomesrs786204454
hgdprs786204454
ensemblrs786204454
gopubmedrs786204454
geneviewrs786204454
scholarrs786204454
googlers786204454
pharmgkbrs786204454
gwascentralrs786204454
openSNPrs786204454
23andMers786204454
23andMe allrs786204454
SNP Nexus

SNPshotrs786204454
SNPdbers786204454
MSV3drs786204454
GWAS Ctlgrs786204454
Max Magnitude6

aka c.955delT, p.Tyr319Metfs

Identified in ClinVar as pathogenic for Krabbe disease (when inherited recessively or as a compound heterozygote)

ClinVar
Risk rs786204454(;)
Alt rs786204454(;)
Reference rs786204454(T;T)
Significance Probable-Pathogenic
Disease Galactosylceramide beta-galactosidase deficiency
Variation info
Gene GALC
CLNDBN Galactosylceramide beta-galactosidase deficiency
Reversed 1
HGVS NC_000014.8:g.88431927delA
CLNSRC
CLNACC RCV000169089.1,