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rs199473410

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs199473410(C;C)
Make rs199473410(C;G)
ReferenceGRCh38 38.1/141
Chromosome11
Position2585276
GeneKCNQ1
is asnp
is mentioned by
dbSNPrs199473410
ebirs199473410
HLIrs199473410
Exacrs199473410
Varsomers199473410
Maprs199473410
PheGenIrs199473410
hapmaprs199473410
1000 genomesrs199473410
hgdprs199473410
ensemblrs199473410
gopubmedrs199473410
geneviewrs199473410
scholarrs199473410
googlers199473410
pharmgkbrs199473410
gwascentralrs199473410
openSNPrs199473410
23andMers199473410
23andMe allrs199473410
SNP Nexus

SNPshotrs199473410
SNPdbers199473410
MSV3drs199473410
GWAS Ctlgrs199473410
Max Magnitude0
ClinVar
Risk rs199473410(A,C;A,C)
Alt rs199473410(A,C;A,C)
Reference rs199473410(G;G)
Significance Pathogenic
Disease Long QT syndrome Congenital long QT syndrome
Variation info
Gene KCNQ1
CLNDBN Long QT syndrome, LQT1 subtype Congenital long QT syndrome
Reversed 0
HGVS NC_000011.9:g.2606506G>A; NC_000011.9:g.2606506G>C
CLNSRC ClinVar
CLNACC RCV000045960.2, RCV000057552.2, RCV000045961.2, RCV000057553.2,


[PMID 9024139] Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.


[PMID 10973849] Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.


[PMID 14678125] Location of mutation in the KCNQ1 and phenotypic presentation of 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 19934648] PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.