Details for KCNQ1:c.562delT, p.Trp188fs

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
25919412570711
VARIANT EFFECT frameshift
ANNOTATION FLAG manually_attributed
GENE KCNQ1
REFERENCE ALLELE CT
ALTERNATE ALLELE C
TRANSCRIPT NM_000218.3
CDNA CHANGE c.562delT
PROTEIN CHANGE p.Trp188fs
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone4.293988Disease causing
DBSNP ID rs397508116
1 combination linked to KCNQ1:c.562delT, p.Trp188fs OLI361
1 disease linked to KCNQ1:c.562delT, p.Trp188fs Familial long QT syndrome
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