rs200378205

Orientation

plus

Stabilized

plus

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

Reference

GRCh38.p2 38.2/144

Chromosome

14

Position

87945631

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs200378205
dbSNP (classic)	rs200378205
ClinGen	rs200378205
ebi	rs200378205
HLI	rs200378205
Exac	rs200378205
Gnomad	rs200378205
Varsome	rs200378205
LitVar	rs200378205
Map	rs200378205
PheGenI	rs200378205
Biobank	rs200378205
1000 genomes	rs200378205
hgdp	rs200378205
ensembl	rs200378205
geneview	rs200378205
scholar	rs200378205
google	rs200378205
pharmgkb	rs200378205
gwascentral	rs200378205
openSNP	rs200378205
23andMe	rs200378205
SNPshot	rs200378205
SNPdbe	rs200378205
MSV3d	rs200378205
GWAS Ctlg	rs200378205

Max Magnitude

6

aka c.1592G>A, p.Arg531His

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

ClinVar
Risk	Rs200378205(T;T)
Alt	Rs200378205(T;T)
Reference	Rs200378205(C;C)
Significance	Other
Disease	not provided Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	not provided Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88411975C>T
CLNSRC	HGMD
CLNACC	RCV000153296.2, RCV000174662.1,