rs28930068
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 5 | Hypokalemic periodic paralysis risk |
| (A;G) | 6.6 | Malignant Hyperthermia susceptibility |
| (G;G) | 0 | common in clinvar |
| Reference | GRCh38 38.1/141 |
| Chromosome | 1 |
| Position | 201053538 |
| Gene | CACNA1S |
| is a | snp |
| is | mentioned by |
| dbSNP | rs28930068 |
| dbSNP (classic) | rs28930068 |
| ClinGen | rs28930068 |
| ebi | rs28930068 |
| HLI | rs28930068 |
| Exac | rs28930068 |
| Gnomad | rs28930068 |
| Varsome | rs28930068 |
| LitVar | rs28930068 |
| Map | rs28930068 |
| PheGenI | rs28930068 |
| Biobank | rs28930068 |
| 1000 genomes | rs28930068 |
| hgdp | rs28930068 |
| ensembl | rs28930068 |
| geneview | rs28930068 |
| scholar | rs28930068 |
| rs28930068 | |
| pharmgkb | rs28930068 |
| gwascentral | rs28930068 |
| openSNP | rs28930068 |
| 23andMe | rs28930068 |
| SNPshot | rs28930068 |
| SNPdbe | rs28930068 |
| MSV3d | rs28930068 |
| GWAS Ctlg | rs28930068 |
| Max Magnitude | 6.6 |
rs28930068, also known as R1239H or Arg1239His, is a SNP in the CACNA1S gene on chromosome 1.
Carrying one copy of a rs28930068(A) allele is sufficient to result in patients with hypokalemic periodic paralysis, type 1.[PMID 8004673]
This variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about.[PMID 23788249
]
| ClinVar | |
|---|---|
| Risk | Rs28930068(A;A) |
| Alt | Rs28930068(A;A) |
| Reference | Rs28930068(G;G) |
| Significance | Pathogenic |
| Disease | Hypokalemic periodic paralysis 1 not provided |
| Variation | info |
| Gene | CACNA1S |
| CLNDBN | Hypokalemic periodic paralysis 1 not provided |
| Reversed | 1 |
| HGVS | NC_000001.10:g.201022666C>T |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000019190.29, RCV000414086.1, |
[PMID 3037387] Primary structure of the receptor for calcium channel blockers from skeletal muscle.
[PMID 7847370] Hypokalemic periodic paralysis and the dihydropyridine receptor (CACNL1A3): genotype/phenotype correlations for two predominant mutations and evidence for the absence of a founder effect in 16 caucasian families.
[PMID 8004673] Dihydropyridine receptor mutations cause hypokalemic periodic paralysis.
[PMID 11353725] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.
