rs121912516

Orientation

minus

Stabilized

minus

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

Make rs121912516(C;C)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150951721

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs121912516
dbSNP (classic)	rs121912516
ClinGen	rs121912516
ebi	rs121912516
HLI	rs121912516
Exac	rs121912516
Gnomad	rs121912516
Varsome	rs121912516
LitVar	rs121912516
Map	rs121912516
PheGenI	rs121912516
Biobank	rs121912516
1000 genomes	rs121912516
hgdp	rs121912516
ensembl	rs121912516
geneview	rs121912516
scholar	rs121912516
google	rs121912516
pharmgkb	rs121912516
gwascentral	rs121912516
openSNP	rs121912516
23andMe	rs121912516
SNPshot	rs121912516
SNPdbe	rs121912516
MSV3d	rs121912516
GWAS Ctlg	rs121912516

Max Magnitude

5

OMIM	152427
Desc
Variant	0025
Related	also

ClinVar
Risk	rs121912516(C;C)
Alt	rs121912516(C;C)
Reference	Rs121912516(G;G)
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.150648809C>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015528.26, RCV000057935.3,

[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 19841300] Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.