rs80338788

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(A;G)	3	possibility of Hypokalemic periodic paralysis
(G;G)	0	common in clinvar

Make rs80338788(A;A)

Reference

GRCh38 38.1/141

Chromosome

17

Position

63959269

Gene	LOC105371858, SCN4A

is a	snp
is	mentioned by
dbSNP	rs80338788
dbSNP (classic)	rs80338788
ClinGen	rs80338788
ebi	rs80338788
HLI	rs80338788
Exac	rs80338788
Gnomad	rs80338788
Varsome	rs80338788
LitVar	rs80338788
Map	rs80338788
PheGenI	rs80338788
Biobank	rs80338788
1000 genomes	rs80338788
hgdp	rs80338788
ensembl	rs80338788
geneview	rs80338788
scholar	rs80338788
google	rs80338788
pharmgkb	rs80338788
gwascentral	rs80338788
openSNP	rs80338788
23andMe	rs80338788
SNPshot	rs80338788
SNPdbe	rs80338788
MSV3d	rs80338788
GWAS Ctlg	rs80338788

Max Magnitude

3

OMIM	603967
Desc
Variant	0016
Related	also

ClinVar
Risk	rs80338788(A;A) rs80338788(T;T)
Alt	rs80338788(A;A) rs80338788(T;T)
Reference	Rs80338788(G;G)
Significance	Pathogenic
Disease	Hypokalemic periodic paralysis Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1
Variation	info
Gene	SCN4A
CLNDBN	Hypokalemic periodic paralysis, type 2 Hypokalemic periodic paralysis 1 Hyperkalemic Periodic Paralysis Type 1
Reversed	1
HGVS	NC_000017.10:g.62036629C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000006275.5, RCV000020264.1, RCV000206975.1,

[PMID 10944223] Voltage-sensor sodium channel mutations cause hypokalemic periodic paralysis type 2 by enhanced inactivation and reduced current.