rs80338785
From SNPedia
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;C) | 3 | possibility of Hypokalemic periodic paralysis |
| (C;C) | 0 | common in complete genomics |
| Make rs80338785(A;A) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 17 |
| Position | 63959270 |
| Gene | LOC105371858, SCN4A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs80338785 |
| dbSNP (classic) | rs80338785 |
| ClinGen | rs80338785 |
| ebi | rs80338785 |
| HLI | rs80338785 |
| Exac | rs80338785 |
| Gnomad | rs80338785 |
| Varsome | rs80338785 |
| LitVar | rs80338785 |
| Map | rs80338785 |
| PheGenI | rs80338785 |
| Biobank | rs80338785 |
| 1000 genomes | rs80338785 |
| hgdp | rs80338785 |
| ensembl | rs80338785 |
| geneview | rs80338785 |
| scholar | rs80338785 |
| rs80338785 | |
| pharmgkb | rs80338785 |
| gwascentral | rs80338785 |
| openSNP | rs80338785 |
| 23andMe | rs80338785 |
| SNPshot | rs80338785 |
| SNPdbe | rs80338785 |
| MSV3d | rs80338785 |
| GWAS Ctlg | rs80338785 |
| Max Magnitude | 3 |
| ClinVar | |
|---|---|
| Risk | rs80338785(A;A) rs80338785(G;G) rs80338785(T;T) |
| Alt | rs80338785(A;A) rs80338785(G;G) rs80338785(T;T) |
| Reference | Rs80338785(C;C) |
| Significance | Pathogenic |
| Disease | Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 Hypokalemic periodic paralysis |
| Variation | info |
| Gene | SCN4A |
| CLNDBN | Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1 Hypokalemic periodic paralysis, type 2 |
| Reversed | 1 |
| HGVS | NC_000017.10:g.62036630G>A; NC_000017.10:g.62036630G>C; NC_000017.10:g.62036630G>T |
| CLNSRC | UniProtKB (protein) OMIM Allelic Variant |
| CLNACC | RCV000020263.1, RCV000206949.1, RCV000006276.5, RCV000020262.1, RCV000206901.1, RCV000006279.4, RCV000020261.1, RCV000206986.1, |
[PMID 11558801] Sodium channel inactivation defects are associated with acetazolamide-exacerbated hypokalemic periodic paralysis.
[PMID 11591859] Sodium channel gene mutations in hypokalemic periodic paralysis: an uncommon cause in the UK.
[PMID 15557532] SCN4A-associated hypokalemic periodic paralysis merits a trial of acetazolamide.
[PMID 10944223
] Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.
[PMID 15482957] Mutation screening in Korean hypokalemic periodic paralysis patients: a novel SCN4A Arg672Cys mutation.
