rs199472942

Orientation

minus

Stabilized

minus

Geno	Mag	Summary
(T;T)	0	common in clinvar

Make rs199472942(C;C)

Make rs199472942(C;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150951562

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs199472942
dbSNP (classic)	rs199472942
ClinGen	rs199472942
ebi	rs199472942
HLI	rs199472942
Exac	rs199472942
Gnomad	rs199472942
Varsome	rs199472942
LitVar	rs199472942
Map	rs199472942
PheGenI	rs199472942
Biobank	rs199472942
1000 genomes	rs199472942
hgdp	rs199472942
ensembl	rs199472942
geneview	rs199472942
scholar	rs199472942
google	rs199472942
pharmgkb	rs199472942
gwascentral	rs199472942
openSNP	rs199472942
23andMe	rs199472942
SNPshot	rs199472942
SNPdbe	rs199472942
MSV3d	rs199472942
GWAS Ctlg	rs199472942

Max Magnitude

0

ClinVar
Risk	rs199472942(C;C) rs199472942(G;G)
Alt	rs199472942(C;C) rs199472942(G;G)
Reference	Rs199472942(T;T)
Significance	Pathogenic
Disease	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Variation	info
Gene	KCNH2
CLNDBN	Congenital long QT syndrome Long QT syndrome Long QT syndrome 2
Reversed	1
HGVS	NC_000007.13:g.150648650A>C; NC_000007.13:g.150648650A>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000058007.3, RCV000190215.1, RCV000022644.25, RCV000058006.3,

[PMID 9024139] Four novel KVLQT1 and four novel HERG mutations in familial 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 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

[PMID 20541041] Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study.