rs199472696

plus

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

Make rs199472696(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2570670

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs199472696
dbSNP (classic)	rs199472696
ClinGen	rs199472696
ebi	rs199472696
HLI	rs199472696
Exac	rs199472696
Gnomad	rs199472696
Varsome	rs199472696
LitVar	rs199472696
Map	rs199472696
PheGenI	rs199472696
Biobank	rs199472696
1000 genomes	rs199472696
hgdp	rs199472696
ensembl	rs199472696
geneview	rs199472696
scholar	rs199472696
google	rs199472696
pharmgkb	rs199472696
gwascentral	rs199472696
openSNP	rs199472696
23andMe	rs199472696
SNPshot	rs199472696
SNPdbe	rs199472696
MSV3d	rs199472696
GWAS Ctlg	rs199472696

Max Magnitude

5

ClinVar
Risk	rs199472696(T;T)
Alt	rs199472696(T;T)
Reference	Rs199472696(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.2591900C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000046072.3, RCV000057689.3, RCV000182078.3,

[PMID 199346] Perianal mucinous adenocarcinoma.

[PMID 9386136] KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

[PMID 11668638] Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

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

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.