rs120074191

plus

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

Make rs120074191(T;T)

Reference

GRCh38 38.1/141

Chromosome

11

Position

2445448

Gene

KCNQ1

is a	snp
is	mentioned by
dbSNP	rs120074191
dbSNP (classic)	rs120074191
ClinGen	rs120074191
ebi	rs120074191
HLI	rs120074191
Exac	rs120074191
Gnomad	rs120074191
Varsome	rs120074191
LitVar	rs120074191
Map	rs120074191
PheGenI	rs120074191
Biobank	rs120074191
1000 genomes	rs120074191
hgdp	rs120074191
ensembl	rs120074191
geneview	rs120074191
scholar	rs120074191
google	rs120074191
pharmgkb	rs120074191
gwascentral	rs120074191
openSNP	rs120074191
23andMe	rs120074191
SNPshot	rs120074191
SNPdbe	rs120074191
MSV3d	rs120074191
GWAS Ctlg	rs120074191

Max Magnitude

5

OMIM	607542
Desc
Variant	0030
Related	also

ClinVar
Risk	rs120074191(T;T)
Alt	rs120074191(T;T)
Reference	Rs120074191(C;C)
Significance	Pathogenic
Disease	Long QT syndrome 1 Long QT syndrome Congenital long QT syndrome
Variation	info
Gene	KCNQ1
CLNDBN	Long QT syndrome 1 Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed	0
HGVS	NC_000011.9:g.2466678C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000003290.3, RCV000046051.2, RCV000057662.3,

[PMID 11684219] Molecular diagnosis in a child with sudden infant death syndrome.

[PMID 17053194] The N-terminal juxtamembranous domain of KCNQ1 is critical for channel surface expression: implications in the Romano-Ward LQT1 syndrome.

[PMID 19114714] LQT1-associated mutations increase KCNQ1 proteasomal degradation independently of Derlin-1.

[PMID 19716085 ] Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.