rs387906954

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;G)	3	carrier of one Krabbe disease allele
(G;G)	6	Krabbe disease (likely)

Reference

GRCh38 38.1/141

Chromosome

14

Position

87965585

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs387906954
dbSNP (classic)	rs387906954
ClinGen	rs387906954
ebi	rs387906954
HLI	rs387906954
Exac	rs387906954
Gnomad	rs387906954
Varsome	rs387906954
LitVar	rs387906954
Map	rs387906954
PheGenI	rs387906954
Biobank	rs387906954
1000 genomes	rs387906954
hgdp	rs387906954
ensembl	rs387906954
geneview	rs387906954
scholar	rs387906954
google	rs387906954
pharmgkb	rs387906954
gwascentral	rs387906954
openSNP	rs387906954
23andMe	rs387906954
SNPshot	rs387906954
SNPdbe	rs387906954
MSV3d	rs387906954
GWAS Ctlg	rs387906954

Max Magnitude

6

aka c.953C>G, p.Pro318Arg

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

ClinVar
Risk	Rs387906954(G;G)
Alt	Rs387906954(G;G)
Reference	Rs387906954(C;C)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88431929G>C
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023594.2,