Details for KCNQ1:p.Arg518Ter

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
27901112768881
VARIANT EFFECT nonsense
ANNOTATION FLAG automatically_attributed
GENE KCNQ1
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE None
PROTEIN CHANGE p.Arg518Ter
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010346.154e-058.674e-050.00.04.619e-050.00017590.03.266e-05

ESP
AAEA
0.00.0001163
PREDICTORS
siftpp2 hvarcaddmutationtaster
NoneNone7.526091Disease causing
DBSNP ID rs17215500
1 combination linked to KCNQ1:p.Arg518Ter OLI445
1 disease linked to KCNQ1:p.Arg518Ter Familial long QT syndrome
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