rs121912505

Orientation

minus

Stabilized

minus

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

Make rs121912505(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150952574

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912505
dbSNP (classic)	rs121912505
ClinGen	rs121912505
ebi	rs121912505
HLI	rs121912505
Exac	rs121912505
Gnomad	rs121912505
Varsome	rs121912505
LitVar	rs121912505
Map	rs121912505
PheGenI	rs121912505
Biobank	rs121912505
1000 genomes	rs121912505
hgdp	rs121912505
ensembl	rs121912505
geneview	rs121912505
scholar	rs121912505
google	rs121912505
pharmgkb	rs121912505
gwascentral	rs121912505
openSNP	rs121912505
23andMe	rs121912505
SNPshot	rs121912505
SNPdbe	rs121912505
MSV3d	rs121912505
GWAS Ctlg	rs121912505

Max Magnitude

5

OMIM	152427
Desc
Variant	0002
Related	also

ClinVar
Risk	rs121912505(G;G)
Alt	rs121912505(G;G)
Reference	Rs121912505(A;A)
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.150649662T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015502.26, RCV000057902.3,

[PMID 7889573] A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

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

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