rs28933381
From SNPedia
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;G) | 5.8 | Myokymia, type 1 |
(G;G) | 0 | common in clinvar |
Make rs28933381(C;C) |
Reference | GRCh38 38.1/141 |
Chromosome | 12 |
Position | 4912102 |
Gene | KCNA1 |
is a | snp |
is | mentioned by |
dbSNP | rs28933381 |
dbSNP (classic) | rs28933381 |
ClinGen | rs28933381 |
ebi | rs28933381 |
HLI | rs28933381 |
Exac | rs28933381 |
Gnomad | rs28933381 |
Varsome | rs28933381 |
LitVar | rs28933381 |
Map | rs28933381 |
PheGenI | rs28933381 |
Biobank | rs28933381 |
1000 genomes | rs28933381 |
hgdp | rs28933381 |
ensembl | rs28933381 |
geneview | rs28933381 |
scholar | rs28933381 |
rs28933381 | |
pharmgkb | rs28933381 |
gwascentral | rs28933381 |
openSNP | rs28933381 |
23andMe | rs28933381 |
SNPshot | rs28933381 |
SNPdbe | rs28933381 |
MSV3d | rs28933381 |
GWAS Ctlg | rs28933381 |
Max Magnitude | 5.8 |
aka c.724G>C (p.Ala242Pro or A242P)
Considered "definitely pathogenic" in the Movement Disorder Society Genetic mutation database (MDSGene) for autosomal dominant myokymia, type 1
See also OMIM 176260.0010
ClinVar | |
---|---|
Risk | rs28933381(C;C) |
Alt | rs28933381(C;C) |
Reference | Rs28933381(G;G) |
Significance | Pathogenic |
Disease | Myokymia 1 not provided |
Variation | info |
Gene | KCNA1 |
CLNDBN | Myokymia 1 not provided |
Reversed | 0 |
HGVS | NC_000012.11:g.5021268G>C |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000014433.24, RCV000441803.1, |