rs80338673

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs80338673(A;A)

Make rs80338673(A;G)

Reference

GRCh38 38.1/141

Chromosome

3

Position

81577972

Gene

GBE1

is a	snp
is	mentioned by
dbSNP	rs80338673
dbSNP (classic)	rs80338673
ClinGen	rs80338673
ebi	rs80338673
HLI	rs80338673
Exac	rs80338673
Gnomad	rs80338673
Varsome	rs80338673
LitVar	rs80338673
Map	rs80338673
PheGenI	rs80338673
Biobank	rs80338673
1000 genomes	rs80338673
hgdp	rs80338673
ensembl	rs80338673
geneview	rs80338673
scholar	rs80338673
google	rs80338673
pharmgkb	rs80338673
gwascentral	rs80338673
openSNP	rs80338673
23andMe	rs80338673
SNPshot	rs80338673
SNPdbe	rs80338673
MSV3d	rs80338673
GWAS Ctlg	rs80338673

Max Magnitude

0

OMIM	607839
Desc
Variant	0007
Related	also

ClinVar
Risk	rs80338673(A;A)
Alt	rs80338673(A;A)
Reference	Rs80338673(G;G)
Significance	Pathogenic
Disease	Glycogen storage disease IV Glycogen storage disease Adult polyglucosan body neuropathy
Variation	info
Gene	GBE1
CLNDBN	Glycogen storage disease IV, combined hepatic and myopathic Glycogen storage disease, type IV Adult polyglucosan body neuropathy
Reversed	1
HGVS	NC_000003.11:g.81627123C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000002915.6, RCV000020162.1, RCV000150107.5,

[PMID 10545044] A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.

[PMID 10762170] Novel missense mutations in the glycogen-branching enzyme gene in adult polyglucosan body disease.

[PMID 15452297] Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV).