Details for KCNE1:c.112A>G, p.Ser38Gly

CHROMOSOME 21
GENOMIC COORDINATES
hg19hg38
3582182134449523
VARIANT EFFECT missense
ANNOTATION FLAG manually_corrected
GENE KCNE1
REFERENCE ALLELE T
ALTERNATE ALLELE C
TRANSCRIPT NM_001127670.3
CDNA CHANGE c.112A>G
PROTEIN CHANGE p.Ser38Gly
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
None0.72470.61380.70830.62430.6636

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.64280.71230.59290.69930.71090.57290.64270.63870.6536

ESP
AAEA
0.71080.6369
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign-0.02371Polymorphism
DBSNP ID rs1805127
2 combinations linked to KCNE1:c.112A>G, p.Ser38Gly OLI549; OLI551
1 disease linked to KCNE1:c.112A>G, p.Ser38Gly Familial long QT syndrome
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