rs80338673
From SNPedia
| 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 |
| rs80338673 | |
| pharmgkb | rs80338673 |
| gwascentral | rs80338673 |
| openSNP | rs80338673 |
| 23andMe | rs80338673 |
| SNPshot | rs80338673 |
| SNPdbe | rs80338673 |
| MSV3d | rs80338673 |
| GWAS Ctlg | rs80338673 |
| Max Magnitude | 0 |
| 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).
