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rs80338673

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80338673(A;A)
Make rs80338673(A;G)
ReferenceGRCh38 38.1/141
Chromosome3
Position81577972
GeneGBE1
is asnp
is mentioned by
dbSNPrs80338673
ebirs80338673
HLIrs80338673
Exacrs80338673
Varsomers80338673
Maprs80338673
PheGenIrs80338673
hapmaprs80338673
1000 genomesrs80338673
hgdprs80338673
ensemblrs80338673
gopubmedrs80338673
geneviewrs80338673
scholarrs80338673
googlers80338673
pharmgkbrs80338673
gwascentralrs80338673
openSNPrs80338673
23andMers80338673
23andMe allrs80338673
SNP Nexus

SNPshotrs80338673
SNPdbers80338673
MSV3drs80338673
GWAS Ctlgrs80338673
Max Magnitude0
OMIM607839
Desc
Variant0007
Relatedalso
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
CLNACC RCV000002915.5, RCV000020162.1, RCV000150107.4,


[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).