Details for KCNQ1:c.760G>A, p.Val254Met

CHROMOSOME 11
GENOMIC COORDINATES
hg19hg38
25933192572089
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE KCNQ1
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_000218.2
CDNA CHANGE c.760G>A
PROTEIN CHANGE p.Val254Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.431045Disease causing
DBSNP ID rs120074179
1 combination linked to KCNQ1:c.760G>A, p.Val254Met OLI202
1 disease linked to KCNQ1:c.760G>A, p.Val254Met Romano-Ward syndrome
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