Details for KCNQ1:c.1022C>A, p.Ala341Glu

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
26047652583535
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNQ1
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT NM_000218.2
CDNA CHANGE c.1022C>A
PROTEIN CHANGE p.Ala341Glu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.67533Disease causing
DBSNP ID rs12720459
1 combination linked to KCNQ1:c.1022C>A, p.Ala341Glu OLI096
1 disease linked to KCNQ1:c.1022C>A, p.Ala341Glu Familial long QT syndrome
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