rs387906955

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

87993044

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs387906955
dbSNP (classic)	rs387906955
ClinGen	rs387906955
ebi	rs387906955
HLI	rs387906955
Exac	rs387906955
Gnomad	rs387906955
Varsome	rs387906955
LitVar	rs387906955
Map	rs387906955
PheGenI	rs387906955
Biobank	rs387906955
1000 genomes	rs387906955
hgdp	rs387906955
ensembl	rs387906955
geneview	rs387906955
scholar	rs387906955
google	rs387906955
pharmgkb	rs387906955
gwascentral	rs387906955
openSNP	rs387906955
23andMe	rs387906955
SNPshot	rs387906955
SNPdbe	rs387906955
MSV3d	rs387906955
GWAS Ctlg	rs387906955

Max Magnitude

6

aka c.121G>A, p.Gly41Ser

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

ClinVar
Risk	Rs387906955(A;A)
Alt	Rs387906955(A;A)
Reference	Rs387906955(G;G)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88459388C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023595.2,