rs121912510

Orientation

minus

Stabilized

minus

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

Make rs121912510(C;T)

Make rs121912510(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150948995

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912510
dbSNP (classic)	rs121912510
ClinGen	rs121912510
ebi	rs121912510
HLI	rs121912510
Exac	rs121912510
Gnomad	rs121912510
Varsome	rs121912510
LitVar	rs121912510
Map	rs121912510
PheGenI	rs121912510
Biobank	rs121912510
1000 genomes	rs121912510
hgdp	rs121912510
ensembl	rs121912510
geneview	rs121912510
scholar	rs121912510
google	rs121912510
pharmgkb	rs121912510
gwascentral	rs121912510
openSNP	rs121912510
23andMe	rs121912510
SNPshot	rs121912510
SNPdbe	rs121912510
MSV3d	rs121912510
GWAS Ctlg	rs121912510

Max Magnitude

0

OMIM	152427
Desc
Variant	0013
Related	also

ClinVar
Risk	rs121912510(T;T)
Alt	rs121912510(T;T)
Reference	Rs121912510(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 2 Congenital long QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Congenital long QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150646083G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015513.22, RCV000058123.3,

[PMID 18441] Enzymatic reduction of mercurous ions in Escherichia coli bearing R factor.

[PMID 10086971] C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

[PMID 10996323] Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

[PMID 11222472] Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.

[PMID 16432067] Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

[PMID 16831322] [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].