rs121918419

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	3	Carrier of a mutation for glycogen storage disease type 0
(T;T)	5	Glycogen storage disease type 0

Reference

GRCh38 38.1/141

Chromosome

12

Position

21568952

Gene

GYS2

is a	snp
is	mentioned by
dbSNP	rs121918419
dbSNP (classic)	rs121918419
ClinGen	rs121918419
ebi	rs121918419
HLI	rs121918419
Exac	rs121918419
Gnomad	rs121918419
Varsome	rs121918419
LitVar	rs121918419
Map	rs121918419
PheGenI	rs121918419
Biobank	rs121918419
1000 genomes	rs121918419
hgdp	rs121918419
ensembl	rs121918419
geneview	rs121918419
scholar	rs121918419
google	rs121918419
pharmgkb	rs121918419
gwascentral	rs121918419
openSNP	rs121918419
23andMe	rs121918419
SNPshot	rs121918419
SNPdbe	rs121918419
MSV3d	rs121918419
GWAS Ctlg	rs121918419

Max Magnitude

5

rs121918419, also known as c.736C>T, p.Arg246Ter and R246X, represents a rare mutation in the GYS2 gene on chromosome 12.

Inherited recessively, the minor allele is considered in ClinVar (and BabySeq) as pathogenic for glycogen storage disease, type 0.

OMIM	138571
Desc
Variant	0001
Related	also

ClinVar
Risk	Rs121918419(T;T)
Alt	Rs121918419(T;T)
Reference	Rs121918419(C;C)
Significance	Pathogenic
Disease	Hypoglycemia with deficiency of glycogen synthetase in the liver
Variation	info
Gene	GYS2
CLNDBN	Hypoglycemia with deficiency of glycogen synthetase in the liver
Reversed	1
HGVS	NC_000012.11:g.21721886G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000017427.28,