Details for KCNQ1:c.1748G>A, p.Arg583His

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
27992212777991
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNQ1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000218.2
CDNA CHANGE c.1748G>A
PROTEIN CHANGE p.Arg583His
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.594e-050.02.893e-050.00.00.02.641e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging2.747182Disease causing
DBSNP ID rs199473482
2 combinations linked to KCNQ1:c.1748G>A, p.Arg583His OLI549; OLI550
1 disease linked to KCNQ1:c.1748G>A, p.Arg583His Familial long QT syndrome
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