rs771489305

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87947745

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs771489305
dbSNP (classic)	rs771489305
ClinGen	rs771489305
ebi	rs771489305
HLI	rs771489305
Exac	rs771489305
Gnomad	rs771489305
Varsome	rs771489305
LitVar	rs771489305
Map	rs771489305
PheGenI	rs771489305
Biobank	rs771489305
1000 genomes	rs771489305
hgdp	rs771489305
ensembl	rs771489305
geneview	rs771489305
scholar	rs771489305
google	rs771489305
pharmgkb	rs771489305
gwascentral	rs771489305
openSNP	rs771489305
23andMe	rs771489305
SNPshot	rs771489305
SNPdbe	rs771489305
MSV3d	rs771489305
GWAS Ctlg	rs771489305

Max Magnitude

6

aka c.1472delA, p.Lys491Argfs

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

ClinVar
Risk	Rs771489305(-;-)
Alt	Rs771489305(-;-)
Reference	Rs771489305(T;T)
Significance	Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88414089delT
CLNSRC
CLNACC	RCV000169172.1,