rs80338680
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 3 | Carrier of an alpha-mannosidosis mutation |
| Make rs80338680(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 12649932 |
| Gene | MAN2B1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338680 |
| dbSNP (classic) | rs80338680 |
| ClinGen | rs80338680 |
| ebi | rs80338680 |
| HLI | rs80338680 |
| Exac | rs80338680 |
| Gnomad | rs80338680 |
| Varsome | rs80338680 |
| LitVar | rs80338680 |
| Map | rs80338680 |
| PheGenI | rs80338680 |
| Biobank | rs80338680 |
| 1000 genomes | rs80338680 |
| hgdp | rs80338680 |
| ensembl | rs80338680 |
| geneview | rs80338680 |
| scholar | rs80338680 |
| rs80338680 | |
| pharmgkb | rs80338680 |
| gwascentral | rs80338680 |
| openSNP | rs80338680 |
| 23andMe | rs80338680 |
| SNPshot | rs80338680 |
| SNPdbe | rs80338680 |
| MSV3d | rs80338680 |
| GWAS Ctlg | rs80338680 |
| GMAF | 0.0004591 |
| Max Magnitude | 3 |
aka c.2248C>T (p.Arg750Trp or R750W)
The R750W mutation is considered to be the most common alpha-mannosidosis mutation in a survey of 30 countries.[PMID 22161967]
23andMe name: i5005927
| ClinVar | |
|---|---|
| Risk | rs80338680(A;A) rs80338680(T;T) |
| Alt | rs80338680(A;A) rs80338680(T;T) |
| Reference | Rs80338680(C;C) |
| Significance | Other |
| Disease | Deficiency of alpha-mannosidase |
| Variation | info |
| Gene | MAN2B1 |
| CLNDBN | Deficiency of alpha-mannosidase |
| Reversed | 1 |
| HGVS | NC_000019.9:g.12760746G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000001755.5, |
[PMID 9915946
] Spectrum of mutations in alpha-mannosidosis.
