Details for KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26

CHROMOSOME 7
GENOMIC COORDINATES
hg19hg38
150644471150947383
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE KCNH2
REFERENCE ALLELE G
ALTERNATE ALLELE GCCGAC
TRANSCRIPT NM_000238.5
CDNA CHANGE c.3092_3096dup
PROTEIN CHANGE p.Arg1033ValfsTer26
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone5.098702Disease causing
DBSNP ID rs1554424083
1 combination linked to KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26 OLI218
1 disease linked to KCNH2:c.3092_3096dup, p.Arg1033ValfsTer26 Familial long QT syndrome
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