rs28933381

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
google	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

OMIM	176260
Desc	MYOKYMIA
Variant	0010
Related	also

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,