rs199472719

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	0	common in clinvar
(C;T)	5	Romano-Ward Long QT Syndrome

Make rs199472719(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572104

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472719
dbSNP (classic)	rs199472719
ClinGen	rs199472719
ebi	rs199472719
HLI	rs199472719
Exac	rs199472719
Gnomad	rs199472719
Varsome	rs199472719
LitVar	rs199472719
Map	rs199472719
PheGenI	rs199472719
Biobank	rs199472719
1000 genomes	rs199472719
hgdp	rs199472719
ensembl	rs199472719
geneview	rs199472719
scholar	rs199472719
google	rs199472719
pharmgkb	rs199472719
gwascentral	rs199472719
openSNP	rs199472719
23andMe	rs199472719
SNPshot	rs199472719
SNPdbe	rs199472719
MSV3d	rs199472719
GWAS Ctlg	rs199472719

Max Magnitude

5

ClinVar
Risk	rs199472719(T;T)
Alt	rs199472719(T;T)
Reference	Rs199472719(C;C)
Significance	Pathogenic
Disease	Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2593334C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046123.5, RCV000057755.3, RCV000223916.1,

[PMID 19716] Adenylate cyclase and guanylate cyclase of normal and denervated skeletal muscle.

[PMID 11021476] Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.

[PMID 12402336] DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

[PMID 12566525] The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 16922724] Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.