rs120074194

Orientation

plus

Stabilized

plus

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

Make rs120074194(A;A)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2572871

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074194
dbSNP (classic)	rs120074194
ClinGen	rs120074194
ebi	rs120074194
HLI	rs120074194
Exac	rs120074194
Gnomad	rs120074194
Varsome	rs120074194
LitVar	rs120074194
Map	rs120074194
PheGenI	rs120074194
Biobank	rs120074194
1000 genomes	rs120074194
hgdp	rs120074194
ensembl	rs120074194
geneview	rs120074194
scholar	rs120074194
google	rs120074194
pharmgkb	rs120074194
gwascentral	rs120074194
openSNP	rs120074194
23andMe	rs120074194
SNPshot	rs120074194
SNPdbe	rs120074194
MSV3d	rs120074194
GWAS Ctlg	rs120074194

Max Magnitude

5

OMIM	607542
Desc
Variant	0034
Related	also

ClinVar
Risk	rs120074194(A;A) rs120074194(T;T)
Alt	rs120074194(A;A) rs120074194(T;T)
Reference	Rs120074194(G;G)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome not provided
Reversed	0
HGVS	NC_000011.9:g.2594101G>A; NC_000011.9:g.2594101G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003295.2, RCV000046133.4, RCV000057766.3, RCV000182119.3, RCV000182307.1,

[PMID 158404] Vasoactive intestinal polypeptide (VIP): distribution in normal human brain and in Huntington's disease.

[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 12051962] Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.