rs80338777

minus

Geno	Mag	Summary
(A;G)	6.6	Malignant Hyperthermia susceptibility
(G;G)	0	common in clinvar

Make rs80338777(A;A)

Reference

GRCh38 38.1/141

Chromosome

1

Position

201077915

Gene

CACNA1S

is a	snp
is	mentioned by
dbSNP	rs80338777
dbSNP (classic)	rs80338777
ClinGen	rs80338777
ebi	rs80338777
HLI	rs80338777
Exac	rs80338777
Gnomad	rs80338777
Varsome	rs80338777
LitVar	rs80338777
Map	rs80338777
PheGenI	rs80338777
Biobank	rs80338777
1000 genomes	rs80338777
hgdp	rs80338777
ensembl	rs80338777
geneview	rs80338777
scholar	rs80338777
google	rs80338777
pharmgkb	rs80338777
gwascentral	rs80338777
openSNP	rs80338777
23andMe	rs80338777
SNPshot	rs80338777
SNPdbe	rs80338777
MSV3d	rs80338777
GWAS Ctlg	rs80338777

Max Magnitude

6.6

OMIM	114208
Desc
Variant	0003
Related	also

ClinVar
Risk	rs80338777(A;A) rs80338777(T;T)
Alt	rs80338777(A;A) rs80338777(T;T)
Reference	Rs80338777(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.201047043C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000019192.24, RCV000414449.1,

[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 7897626 ] Mutation in DHP receptor alpha 1 subunit (CACLN1A3) gene in a Dutch family with hypokalaemic periodic paralysis.

[PMID 7987325] A calcium channel mutation causing hypokalemic periodic paralysis.

[PMID 10074484 ] Impairment of skeletal muscle adenosine triphosphate-sensitive K+ channels in patients with hypokalemic periodic paralysis.

[PMID 11353725] Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.