rs730880031
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (G;G) | 0 | common in clinvar |
| (G;T) | 6 | Spinal muscular atrophy, Jokela type |
| Make rs730880031(T;T) |
| Reference | GRCh38.p2 38.2/144 |
| Chromosome | 22 |
| Position | 23767438 |
| Gene | CHCHD10, LOC107985577 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs730880031 |
| dbSNP (classic) | rs730880031 |
| ClinGen | rs730880031 |
| ebi | rs730880031 |
| HLI | rs730880031 |
| Exac | rs730880031 |
| Gnomad | rs730880031 |
| Varsome | rs730880031 |
| LitVar | rs730880031 |
| Map | rs730880031 |
| PheGenI | rs730880031 |
| Biobank | rs730880031 |
| 1000 genomes | rs730880031 |
| hgdp | rs730880031 |
| ensembl | rs730880031 |
| geneview | rs730880031 |
| scholar | rs730880031 |
| rs730880031 | |
| pharmgkb | rs730880031 |
| gwascentral | rs730880031 |
| openSNP | rs730880031 |
| 23andMe | rs730880031 |
| SNPshot | rs730880031 |
| SNPdbe | rs730880031 |
| MSV3d | rs730880031 |
| GWAS Ctlg | rs730880031 |
| Max Magnitude | 6 |
rs730880031, also known as c.197G>T, p.Gly66Val and G66V, is a rare mutation in the CHCHD10 gene on chromosome 22.
As an autosomal dominant, one copy of the rs730880031(T) allele is reported to be sufficient to lead to the Jokela type of spinal muscular atrophy, which is also known as Late-onset spinal motor neuronopathy (LOSMoN).
See also OMIM 615903.0003
| ClinVar | |
|---|---|
| Risk | rs730880031(T;T) |
| Alt | rs730880031(T;T) |
| Reference | Rs730880031(G;G) |
| Significance | Pathogenic |
| Disease | Spinal muscular atrophy |
| Variation | info |
| Gene | CHCHD10 |
| CLNDBN | Spinal muscular atrophy, jokela type |
| Reversed | 1 |
| HGVS | NC_000022.10:g.24109625C>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000157070.5, |
