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rs199473480

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T)
Make rs199473480(T;T)
ReferenceGRCh38 38.1/142
Chromosome11
Position2776006
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473480
dbSNP (classic)rs199473480
ClinGenrs199473480
ebirs199473480
HLIrs199473480
Exacrs199473480
Gnomadrs199473480
Varsomers199473480
LitVarrs199473480
Maprs199473480
PheGenIrs199473480
Biobankrs199473480
1000 genomesrs199473480
hgdprs199473480
ensemblrs199473480
geneviewrs199473480
scholarrs199473480
googlers199473480
pharmgkbrs199473480
gwascentralrs199473480
openSNPrs199473480
23andMers199473480
SNPshotrs199473480
SNPdbers199473480
MSV3drs199473480
GWAS Ctlgrs199473480
Max Magnitude0
ClinVar
Risk rs199473480(T;T)
Alt rs199473480(T;T)
Reference Rs199473480(C;C)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome Congenital long QT syndrome Long QT syndrome 1 not provided
Reversed 0
HGVS NC_000011.9:g.2797236C>T
CLNSRC UniProtKB (protein)
CLNACC RCV000046008.3, RCV000057608.3, RCV000174453.1, RCV000182209.3,



Associated with inherited long QT syndrome (LQTS).


[PMID 25037568OA-icon.png] Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

[PMID 22581653OA-icon.png] Paralogous annotation of disease-causing variants in long QT syndrome genes.

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

[PMID 19808498OA-icon.png] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

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

[PMID 17905336OA-icon.png] Long QT and Brugada syndrome gene mutations in New Zealand.

[PMID 15840476] Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

[PMID 15176425] Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.

[PMID 15466642] Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.