rs121908548
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 4.4 | Potassium aggravated myotonia; paramyotonia congenita |
| (G;G) | 0 | common in clinvar |
| Make rs121908548(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 63941517 |
| Gene | SCN4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs121908548 |
| dbSNP (classic) | rs121908548 |
| ClinGen | rs121908548 |
| ebi | rs121908548 |
| HLI | rs121908548 |
| Exac | rs121908548 |
| Gnomad | rs121908548 |
| Varsome | rs121908548 |
| LitVar | rs121908548 |
| Map | rs121908548 |
| PheGenI | rs121908548 |
| Biobank | rs121908548 |
| 1000 genomes | rs121908548 |
| hgdp | rs121908548 |
| ensembl | rs121908548 |
| geneview | rs121908548 |
| scholar | rs121908548 |
| rs121908548 | |
| pharmgkb | rs121908548 |
| gwascentral | rs121908548 |
| openSNP | rs121908548 |
| 23andMe | rs121908548 |
| SNPshot | rs121908548 |
| SNPdbe | rs121908548 |
| MSV3d | rs121908548 |
| GWAS Ctlg | rs121908548 |
| Max Magnitude | 4.4 |
rs121908548, also known as c.4765G>A, p.Val1589Met and V1589M, represents a rare mutation in the SCN4A gene on chromosome 17.
Based on OMIM, ClinVar designates the mutant allele as pathogenic for paramyotonia congenita, a form of potassium aggravated myotonia that is dominantly inherited. As reported in two families, the clinical description can encompass potassium-aggravated myotonia without muscle weakness and/or cramps in the fingers, toes, and eyelids.
| ClinVar | |
|---|---|
| Risk | rs121908548(A;A) |
| Alt | rs121908548(A;A) |
| Reference | Rs121908548(G;G) |
| Significance | Pathogenic |
| Disease | Potassium aggravated myotonia Paramyotonia congenita of von Eulenburg |
| Variation | info |
| Gene | SCN4A |
| CLNDBN | Potassium aggravated myotonia Paramyotonia congenita of von Eulenburg |
| Reversed | 1 |
| HGVS | NC_000017.10:g.62018877C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006267.4, RCV000006268.4, |
