rs398123177

Orientation

minus

Stabilized

minus

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

Reference

GRCh38 38.1/141

Chromosome

14

Position

87968381

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs398123177
dbSNP (classic)	rs398123177
ClinGen	rs398123177
ebi	rs398123177
HLI	rs398123177
Exac	rs398123177
Gnomad	rs398123177
Varsome	rs398123177
LitVar	rs398123177
Map	rs398123177
PheGenI	rs398123177
Biobank	rs398123177
1000 genomes	rs398123177
hgdp	rs398123177
ensembl	rs398123177
geneview	rs398123177
scholar	rs398123177
google	rs398123177
pharmgkb	rs398123177
gwascentral	rs398123177
openSNP	rs398123177
23andMe	rs398123177
SNPshot	rs398123177
SNPdbe	rs398123177
MSV3d	rs398123177
GWAS Ctlg	rs398123177

Max Magnitude

6

aka c.862T>C, p.Trp288Arg

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

ClinVar
Risk	Rs398123177(C;C)
Alt	Rs398123177(C;C)
Reference	Rs398123177(T;T)
Significance	Probable-Pathogenic
Disease	not provided Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	not provided Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88434725A>G
CLNSRC	ClinVar Emory University
CLNACC	RCV000078208.3, RCV000180100.1,