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rs199473487

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(A;C) 5 Long QT syndrome, type 2
Make rs199473487(C;C)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position150974920
GeneKCNH2, LOC107986861
is asnp
is mentioned by
dbSNPrs199473487
dbSNP (old)rs199473487
ClinGenrs199473487
ebirs199473487
HLIrs199473487
Exacrs199473487
Gnomadrs199473487
Varsomers199473487
Maprs199473487
PheGenIrs199473487
Biobankrs199473487
1000 genomesrs199473487
hgdprs199473487
ensemblrs199473487
gopubmedrs199473487
geneviewrs199473487
scholarrs199473487
googlers199473487
pharmgkbrs199473487
gwascentralrs199473487
openSNPrs199473487
23andMers199473487
23andMe allrs199473487
SNP Nexus

SNPshotrs199473487
SNPdbers199473487
MSV3drs199473487
GWAS Ctlgrs199473487
Max Magnitude5

rs199473487, also known as c.98A>C, p.Asn33Thr or N33T, represents a rare mutation in the KCNH2 gene on chromosome 7.

Acting generally in an autosomal dominant manner, the rs199473487(C) allele is considered pathogenic for Long QT syndrome type 2 (LQT2).

23andMe name: i5012355


ClinVar
Risk rs199473487(C;C)
Alt rs199473487(C;C)
Reference Rs199473487(A;A)
Significance Probable-Pathogenic
Disease not provided
Variation info
Gene KCNH2
CLNDBN not provided
Reversed 1
HGVS NC_000007.13:g.150672008T>G
CLNSRC UniProtKB (protein)
CLNACC RCV000058282.5,