Details for KCNQ1:c.728G>C, p.Arg243Pro

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
25932872572057
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNQ1
REFERENCE ALLELE G
ALTERNATE ALLELE C
TRANSCRIPT NM_000218.2
CDNA CHANGE c.728G>C
PROTEIN CHANGE p.Arg243Pro
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging4.162184Disease causing
DBSNP ID rs120074196
1 combination linked to KCNQ1:c.728G>C, p.Arg243Pro OLI362
1 disease linked to KCNQ1:c.728G>C, p.Arg243Pro Familial long QT syndrome
Found any issues with the data on this page? Report this entry.