rs121912508

Orientation

minus

Stabilized

minus

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

Make rs121912508(T;T)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150951649

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912508
dbSNP (classic)	rs121912508
ClinGen	rs121912508
ebi	rs121912508
HLI	rs121912508
Exac	rs121912508
Gnomad	rs121912508
Varsome	rs121912508
LitVar	rs121912508
Map	rs121912508
PheGenI	rs121912508
Biobank	rs121912508
1000 genomes	rs121912508
hgdp	rs121912508
ensembl	rs121912508
geneview	rs121912508
scholar	rs121912508
google	rs121912508
pharmgkb	rs121912508
gwascentral	rs121912508
openSNP	rs121912508
23andMe	rs121912508
SNPshot	rs121912508
SNPdbe	rs121912508
MSV3d	rs121912508
GWAS Ctlg	rs121912508

Max Magnitude

5

OMIM	152427
Desc
Variant	0009
Related	also

ClinVar
Risk	rs121912508(T;T)
Alt	rs121912508(T;T)
Reference	Rs121912508(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 2 Congenital long QT syndrome not provided
Variation	info
Gene	KCNH2
CLNDBN	Long QT syndrome 2 Congenital long QT syndrome not provided
Reversed	1
HGVS	NC_000007.13:g.150648737G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015509.26, RCV000057970.3, RCV000181815.2,

[PMID 15840] The purification and properties of NADP-dependent isocitrate dehydrogenase from ox-heart mitochondria.

[PMID 10220144] Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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

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

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

[PMID 12877697] Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.