rs120074189
Orientation | plus |
Stabilized | plus |
Geno | Mag | Summary |
---|---|---|
(C;C) | 0 | common in clinvar |
(C;T) | 5 | Romano-Ward Long QT Syndrome |
Make rs120074189(T;T) |
Reference | GRCh38 38.1/141 |
Chromosome | 11 |
Position | 2778003 |
Gene | KCNQ1 |
is a | snp |
is | mentioned by |
dbSNP | rs120074189 |
dbSNP (classic) | rs120074189 |
ClinGen | rs120074189 |
ebi | rs120074189 |
HLI | rs120074189 |
Exac | rs120074189 |
Gnomad | rs120074189 |
Varsome | rs120074189 |
LitVar | rs120074189 |
Map | rs120074189 |
PheGenI | rs120074189 |
Biobank | rs120074189 |
1000 genomes | rs120074189 |
hgdp | rs120074189 |
ensembl | rs120074189 |
geneview | rs120074189 |
scholar | rs120074189 |
rs120074189 | |
pharmgkb | rs120074189 |
gwascentral | rs120074189 |
openSNP | rs120074189 |
23andMe | rs120074189 |
SNPshot | rs120074189 |
SNPdbe | rs120074189 |
MSV3d | rs120074189 |
GWAS Ctlg | rs120074189 |
Max Magnitude | 5 |
ClinVar | |
---|---|
Risk | rs120074189(T;T) |
Alt | rs120074189(T;T) |
Reference | Rs120074189(C;C) |
Significance | Pathogenic |
Disease | Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Variation | info |
Gene | KCNQ1 |
CLNDBN | Jervell and Lange-Nielsen syndrome 1 Long QT syndrome Congenital long QT syndrome not provided |
Reversed | 0 |
HGVS | NC_000011.9:g.2799233C>T |
CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
CLNACC | RCV000003286.6, RCV000046026.3, RCV000057632.3, RCV000182221.3, |
[PMID 173292] Oxidase-peroxidase enzymes of Datura innoxia. Oxidation of reduced nicotinamide-adenine dinucleotide in the presence of formylphenylacetic acid ethyl ester.
[PMID 9799083] Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.
[PMID 10024302] Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.
[PMID 11162126] Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.
[PMID 12702160] KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.
[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.