rs147313927

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs147313927(C;C)

Make rs147313927(C;T)

Reference

GRCh38 38.1/142

Chromosome

14

Position

87986597

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs147313927
dbSNP (classic)	rs147313927
ClinGen	rs147313927
ebi	rs147313927
HLI	rs147313927
Exac	rs147313927
Gnomad	rs147313927
Varsome	rs147313927
LitVar	rs147313927
Map	rs147313927
PheGenI	rs147313927
Biobank	rs147313927
1000 genomes	rs147313927
hgdp	rs147313927
ensembl	rs147313927
geneview	rs147313927
scholar	rs147313927
google	rs147313927
pharmgkb	rs147313927
gwascentral	rs147313927
openSNP	rs147313927
23andMe	rs147313927
SNPshot	rs147313927
SNPdbe	rs147313927
MSV3d	rs147313927
GWAS Ctlg	rs147313927

Max Magnitude

0

c.334A>G, p.Thr112Ala

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

ClinVar
Risk	rs147313927(C;C) rs147313927(G;G)
Alt	rs147313927(C;C) rs147313927(G;G)
Reference	Rs147313927(T;T)
Significance	Pathogenic
Disease	not provided Galactosylceramide beta-galactosidase deficiency not specified
Variation	info
Gene	GALC
CLNDBN	not provided Galactosylceramide beta-galactosidase deficiency not specified
Reversed	0
HGVS	NC_000014.8:g.88452941T>C
CLNSRC	HGMD
CLNACC	RCV000078200.3, RCV000178047.1, RCV000256023.1,