rs28928909
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 2.9 | Possible tendency for muscle cramps? |
| Make rs28928909(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 12 |
| Position | 80708053 |
| Gene | LOC105369867, MYF6 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28928909 |
| dbSNP (classic) | rs28928909 |
| ClinGen | rs28928909 |
| ebi | rs28928909 |
| HLI | rs28928909 |
| Exac | rs28928909 |
| Gnomad | rs28928909 |
| Varsome | rs28928909 |
| LitVar | rs28928909 |
| Map | rs28928909 |
| PheGenI | rs28928909 |
| Biobank | rs28928909 |
| 1000 genomes | rs28928909 |
| hgdp | rs28928909 |
| ensembl | rs28928909 |
| geneview | rs28928909 |
| scholar | rs28928909 |
| rs28928909 | |
| pharmgkb | rs28928909 |
| gwascentral | rs28928909 |
| openSNP | rs28928909 |
| 23andMe | rs28928909 |
| SNPshot | rs28928909 |
| SNPdbe | rs28928909 |
| MSV3d | rs28928909 |
| GWAS Ctlg | rs28928909 |
| GMAF | 0.0009183 |
| Max Magnitude | 2.9 |
rs28928909, also known as c.334G>T, p.Ala112Ser and A112S, represents a rare variant in the MYF6 gene, a member of a gene family of muscle determination factors in humans.
One report published in 2000, describing a mild case of centronuclear myopathy in a 9 year old boy (based on complaints of muscle cramps and weakness in his lower limbs during vigorous exercise), concludes that the likely causative mutation, acting in an autosomal dominant manner, was rs28928909(T).[PMID 11053684]
This variant is quite rare (with only about 100 carriers out of 60,000 sequenced according to ExAC), but the association with any form of myopathy has not been replicated to our knowledge. See the Talk page for rs28928909(G;T) for report(s) from Promethease users.
| ClinVar | |
|---|---|
| Risk | rs28928909(T;T) |
| Alt | rs28928909(T;T) |
| Reference | Rs28928909(G;G) |
| Significance | Pathogenic |
| Disease | Myopathy not specified |
| Variation | info |
| Gene | MYF6 |
| CLNDBN | Myopathy, centronuclear, 3 not specified |
| Reversed | 0 |
| HGVS | NC_000012.11:g.81101832G>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000015216.26, RCV000413227.1, |
