rs80338784
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;G) | 3 | possibility of Hypokalemic periodic paralysis |
| (G;G) | 0 | common in clinvar |
| Make rs80338784(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 63959278 |
| Gene | LOC105371858, SCN4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338784 |
| dbSNP (classic) | rs80338784 |
| ClinGen | rs80338784 |
| ebi | rs80338784 |
| HLI | rs80338784 |
| Exac | rs80338784 |
| Gnomad | rs80338784 |
| Varsome | rs80338784 |
| LitVar | rs80338784 |
| Map | rs80338784 |
| PheGenI | rs80338784 |
| Biobank | rs80338784 |
| 1000 genomes | rs80338784 |
| hgdp | rs80338784 |
| ensembl | rs80338784 |
| geneview | rs80338784 |
| scholar | rs80338784 |
| rs80338784 | |
| pharmgkb | rs80338784 |
| gwascentral | rs80338784 |
| openSNP | rs80338784 |
| 23andMe | rs80338784 |
| SNPshot | rs80338784 |
| SNPdbe | rs80338784 |
| MSV3d | rs80338784 |
| GWAS Ctlg | rs80338784 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338784(A;A) |
| Alt | rs80338784(A;A) |
| Reference | Rs80338784(G;G) |
| Significance | Pathogenic |
| Disease | Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 |
| Variation | info |
| Gene | SCN4A |
| CLNDBN | Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.62036638C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000006274.5, RCV000020260.1, RCV000206926.1, |
[PMID 10599760] A novel sodium channel mutation in a family with hypokalemic periodic paralysis.
[PMID 11102465
] The human skeletal muscle Na channel mutation R669H associated with hypokalemic periodic paralysis enhances slow inactivation.
[PMID 15557532] SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
