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, |