rs766310671

Orientation

plus

Stabilized

plus

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.p2 38.2/144

Chromosome

14

Position

87976452

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs766310671
dbSNP (classic)	rs766310671
ClinGen	rs766310671
ebi	rs766310671
HLI	rs766310671
Exac	rs766310671
Gnomad	rs766310671
Varsome	rs766310671
LitVar	rs766310671
Map	rs766310671
PheGenI	rs766310671
Biobank	rs766310671
1000 genomes	rs766310671
hgdp	rs766310671
ensembl	rs766310671
geneview	rs766310671
scholar	rs766310671
google	rs766310671
pharmgkb	rs766310671
gwascentral	rs766310671
openSNP	rs766310671
23andMe	rs766310671
SNPshot	rs766310671
SNPdbe	rs766310671
MSV3d	rs766310671
GWAS Ctlg	rs766310671

Max Magnitude

6

aka c.658C>T, p.Arg220Ter

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

ClinVar
Risk	Rs766310671(A;A)
Alt	Rs766310671(A;A)
Reference	Rs766310671(G;G)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88442796G>A
CLNSRC
CLNACC	RCV000169413.1,