Details for FLRT3:c.1106C>T, p.Ala369Val

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
1430704714326401
VARIANT EFFECT None
ANNOTATION FLAG None
GENE FLRT3
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.1106C>T
PROTEIN CHANGE p.Ala369Val
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.594e-050.00.00.00.00.03.531e-050.00.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign1.421769Polymorphism
DBSNP ID NA
1 combination linked to FLRT3:c.1106C>T, p.Ala369Val OLI1652
1 disease linked to FLRT3:c.1106C>T, p.Ala369Val Kallmann syndrome

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