rs80338709
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| Make rs80338709(C;C) |
| Make rs80338709(C;G) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 16 |
| Position | 8847806 |
| Gene | PMM2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338709 |
| dbSNP (classic) | rs80338709 |
| ClinGen | rs80338709 |
| ebi | rs80338709 |
| HLI | rs80338709 |
| Exac | rs80338709 |
| Gnomad | rs80338709 |
| Varsome | rs80338709 |
| LitVar | rs80338709 |
| Map | rs80338709 |
| PheGenI | rs80338709 |
| Biobank | rs80338709 |
| 1000 genomes | rs80338709 |
| hgdp | rs80338709 |
| ensembl | rs80338709 |
| geneview | rs80338709 |
| scholar | rs80338709 |
| rs80338709 | |
| pharmgkb | rs80338709 |
| gwascentral | rs80338709 |
| openSNP | rs80338709 |
| 23andMe | rs80338709 |
| SNPshot | rs80338709 |
| SNPdbe | rs80338709 |
| MSV3d | rs80338709 |
| GWAS Ctlg | rs80338709 |
| Max Magnitude | 0 |
| ClinVar | |
|---|---|
| Risk | rs80338709(C;C) |
| Alt | rs80338709(C;C) |
| Reference | Rs80338709(G;G) |
| Significance | Pathogenic |
| Disease | Carbohydrate-deficient glycoprotein syndrome type I not provided |
| Variation | info |
| Gene | PMM2 |
| CLNDBN | Carbohydrate-deficient glycoprotein syndrome type I not provided |
| Reversed | 0 |
| HGVS | NC_000016.9:g.8941663G>C |
| CLNSRC | HGMD OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000008156.4, RCV000153745.2, |
[PMID 10922383
] Identification of four novel PMM2 mutations in congenital disorders of glycosylation (CDG) Ia French patients.
[PMID 11156536] High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency).
