Details for KCNH2:c.2690A>C, p.Lys897Thr

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150645534150948446
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNH2
REFERENCE ALLELE T
ALTERNATE ALLELE G
TRANSCRIPT NM_000238.3
CDNA CHANGE c.2690A>C
PROTEIN CHANGE p.Lys897Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.13620.00680.170.05360.25350.2515

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.18120.037360.11360.20390.047670.16490.23550.20720.2083

ESP
AAEA
0.045170.2326
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.9241Polymorphism
DBSNP ID rs1805123
1 combination linked to KCNH2:c.2690A>C, p.Lys897Thr OLI549
1 disease linked to KCNH2:c.2690A>C, p.Lys897Thr Familial long QT syndrome
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