rs387906952

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

87945593

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs387906952
dbSNP (classic)	rs387906952
ClinGen	rs387906952
ebi	rs387906952
HLI	rs387906952
Exac	rs387906952
Gnomad	rs387906952
Varsome	rs387906952
LitVar	rs387906952
Map	rs387906952
PheGenI	rs387906952
Biobank	rs387906952
1000 genomes	rs387906952
hgdp	rs387906952
ensembl	rs387906952
geneview	rs387906952
scholar	rs387906952
google	rs387906952
pharmgkb	rs387906952
gwascentral	rs387906952
openSNP	rs387906952
23andMe	rs387906952
SNPshot	rs387906952
SNPdbe	rs387906952
MSV3d	rs387906952
GWAS Ctlg	rs387906952

Max Magnitude

6

aka c.1630G>A, p.Asp544Asn or D544N

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

ClinVar
Risk	Rs387906952(A;A)
Alt	Rs387906952(A;A)
Reference	Rs387906952(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.88411937C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000023588.2,