rs121912805
From SNPedia
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 6 | Myotonia congenita; quite variable in degree |
| (A;G) | 2.5 | carrier of a myotonia congenita allele; variable in degree |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 143330789 |
| Gene | CLCN1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121912805 |
| dbSNP (classic) | rs121912805 |
| ClinGen | rs121912805 |
| ebi | rs121912805 |
| HLI | rs121912805 |
| Exac | rs121912805 |
| Gnomad | rs121912805 |
| Varsome | rs121912805 |
| LitVar | rs121912805 |
| Map | rs121912805 |
| PheGenI | rs121912805 |
| Biobank | rs121912805 |
| 1000 genomes | rs121912805 |
| hgdp | rs121912805 |
| ensembl | rs121912805 |
| geneview | rs121912805 |
| scholar | rs121912805 |
| rs121912805 | |
| pharmgkb | rs121912805 |
| gwascentral | rs121912805 |
| openSNP | rs121912805 |
| 23andMe | rs121912805 |
| SNPshot | rs121912805 |
| SNPdbe | rs121912805 |
| MSV3d | rs121912805 |
| GWAS Ctlg | rs121912805 |
| Max Magnitude | 6 |
rs121912805, also known as c.871G>A or p.Glu291Lys, is a mutation in the CLCN1 gene on chromosome 7.
Acting in either an autosomal dominant or recessive manner, the rs121912805(A) allele is considered to cause myotonia congenita; see also OMIM 118425.0010
Note that 23andMe refers to this SNP as i5003258.
| ClinVar | |
|---|---|
| Risk | Rs121912805(A;A) |
| Alt | Rs121912805(A;A) |
| Reference | Rs121912805(G;G) |
| Significance | Pathogenic |
| Disease | Congenital myotonia |
| Variation | info |
| Gene | CLCN1 |
| CLNDBN | Congenital myotonia, autosomal recessive form |
| Reversed | 0 |
| HGVS | NC_000007.13:g.143027882G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019093.24, |
