rs28937594
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 6 | Inclusion Body Myopathy, type 2 |
| (C;T) | 3 | Carrier of one inclusion body myopathy mutation |
| (T;T) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 9 |
| Position | 36217399 |
| Gene | GNE |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28937594 |
| dbSNP (classic) | rs28937594 |
| ClinGen | rs28937594 |
| ebi | rs28937594 |
| HLI | rs28937594 |
| Exac | rs28937594 |
| Gnomad | rs28937594 |
| Varsome | rs28937594 |
| LitVar | rs28937594 |
| Map | rs28937594 |
| PheGenI | rs28937594 |
| Biobank | rs28937594 |
| 1000 genomes | rs28937594 |
| hgdp | rs28937594 |
| ensembl | rs28937594 |
| geneview | rs28937594 |
| scholar | rs28937594 |
| rs28937594 | |
| pharmgkb | rs28937594 |
| gwascentral | rs28937594 |
| openSNP | rs28937594 |
| 23andMe | rs28937594 |
| SNPshot | rs28937594 |
| SNPdbe | rs28937594 |
| MSV3d | rs28937594 |
| GWAS Ctlg | rs28937594 |
| Max Magnitude | 6 |
rs28937594, also known as c.2228T>C, p.Met743Thr, M743T and most commonly in the literature M712T, is a mutation in the GNE gene on chromosome 9.
The very rare rs28937594(C) allele is the most common mutation leading to autosomal recessive inclusion body myopathy 2 (IBM2 or HIBM) in Middle Eastern populations.[PMID 12743242]
See also OMIM 603824.0005
| ClinVar | |
|---|---|
| Risk | Rs28937594(C;C) |
| Alt | Rs28937594(C;C) |
| Reference | Rs28937594(T;T) |
| Significance | Pathogenic |
| Disease | Inclusion body myopathy 2 Nonaka myopathy Sialuria not provided |
| Variation | info |
| Gene | GNE |
| CLNDBN | Inclusion body myopathy 2 Nonaka myopathy Sialuria not provided |
| Reversed | 1 |
| HGVS | NC_000009.11:g.36217396A>G |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000006395.9, RCV000006396.4, RCV000350827.1, RCV000443895.1, |
