rs786204618

Orientation

minus

Stabilized

minus

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

Reference

GRCh38.p2 38.2/146

Chromosome

14

Position

87982227

Gene

GALC

is a	snp
is	mentioned by
dbSNP	rs786204618
dbSNP (classic)	rs786204618
ClinGen	rs786204618
ebi	rs786204618
HLI	rs786204618
Exac	rs786204618
Gnomad	rs786204618
Varsome	rs786204618
LitVar	rs786204618
Map	rs786204618
PheGenI	rs786204618
Biobank	rs786204618
1000 genomes	rs786204618
hgdp	rs786204618
ensembl	rs786204618
geneview	rs786204618
scholar	rs786204618
google	rs786204618
pharmgkb	rs786204618
gwascentral	rs786204618
openSNP	rs786204618
23andMe	rs786204618
SNPshot	rs786204618
SNPdbe	rs786204618
MSV3d	rs786204618
GWAS Ctlg	rs786204618

Max Magnitude

6

aka c.599C>A, p.Ser200Ter

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

ClinVar
Risk	Rs786204618(A;A)
Alt	Rs786204618(A;A)
Reference	Rs786204618(C;C)
Significance	Probable-Pathogenic
Disease	Galactosylceramide beta-galactosidase deficiency
Variation	info
Gene	GALC
CLNDBN	Galactosylceramide beta-galactosidase deficiency
Reversed	1
HGVS	NC_000014.8:g.88448571G>T
CLNSRC
CLNACC	RCV000169386.1,