rs104894021

minus

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

Make rs104894021(C;G)

Make rs104894021(G;G)

Reference

GRCh38 38.1/141

Chromosome

7

Position

150951629

Gene

KCNH2

is a	snp
is	mentioned by
dbSNP	rs104894021
dbSNP (classic)	rs104894021
ClinGen	rs104894021
ebi	rs104894021
HLI	rs104894021
Exac	rs104894021
Gnomad	rs104894021
Varsome	rs104894021
LitVar	rs104894021
Map	rs104894021
PheGenI	rs104894021
Biobank	rs104894021
1000 genomes	rs104894021
hgdp	rs104894021
ensembl	rs104894021
geneview	rs104894021
scholar	rs104894021
google	rs104894021
pharmgkb	rs104894021
gwascentral	rs104894021
openSNP	rs104894021
23andMe	rs104894021
SNPshot	rs104894021
SNPdbe	rs104894021
MSV3d	rs104894021
GWAS Ctlg	rs104894021

Max Magnitude

0

OMIM	152427
Desc
Variant	0018
Related	also

OMIM	152427
Desc
Variant	0017
Related	also

ClinVar
Risk	rs104894021(A;A) rs104894021(G;G)
Alt	rs104894021(A;A) rs104894021(G;G)
Reference	Rs104894021(C;C)
Significance	Pathogenic
Disease	Short QT syndrome 1 Short QT syndrome
Variation	info
Gene	KCNH2
CLNDBN	Short QT syndrome 1 short QT syndrome
Reversed	1
HGVS	NC_000007.13:g.150648717G>C; NC_000007.13:g.150648717G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000015517.27, RCV000057981.3, RCV000015518.23, RCV000057980.3,

[PMID 14676148] Sudden death associated with short-QT syndrome linked to mutations in HERG.

[PMID 15828882] Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.

[PMID 19088443] Biophysical characterization of the short QT mutation hERG-N588K reveals a mixed gain-and loss-of-function.

[PMID 19439805] Comparative effects of the short QT N588K mutation at 37 degrees C on hERG K+ channel current during ventricular, Purkinje fibre and atrial action potentials: an action potential clamp study.

[PMID 19501051 ] hERG1a/1b heteromeric currents exhibit amplified attenuation of inactivation in variant 1 short QT syndrome.