rs748573754

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

87945566

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs748573754
dbSNP (classic)	rs748573754
ClinGen	rs748573754
ebi	rs748573754
HLI	rs748573754
Exac	rs748573754
Gnomad	rs748573754
Varsome	rs748573754
LitVar	rs748573754
Map	rs748573754
PheGenI	rs748573754
Biobank	rs748573754
1000 genomes	rs748573754
hgdp	rs748573754
ensembl	rs748573754
geneview	rs748573754
scholar	rs748573754
google	rs748573754
pharmgkb	rs748573754
gwascentral	rs748573754
openSNP	rs748573754
23andMe	rs748573754
SNPshot	rs748573754
SNPdbe	rs748573754
MSV3d	rs748573754
GWAS Ctlg	rs748573754

Max Magnitude

6

aka c.1657G>A, p.Gly553Arg

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

ClinVar
Risk	Rs748573754(T;T)
Alt	Rs748573754(T;T)
Reference	Rs748573754(C;C)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	0
HGVS	NC_000014.8:g.88411910C>T
CLNSRC
CLNACC	RCV000169525.1,