Details for PNPLA6:c.2467G>A, p.Ala823Thr

CHROMOSOME 19
GENOMIC COORDINATES
hg19hg38
76191307554244
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PNPLA6
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.2467G>A
PROTEIN CHANGE p.Ala823Thr
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
NoneNoneNoneNoneNoneNoneNoneNoneNone

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedBenign2.663674Polymorphism
DBSNP ID NA
1 combination linked to PNPLA6:c.2467G>A, p.Ala823Thr OLI1323
1 disease linked to PNPLA6:c.2467G>A, p.Ala823Thr Kallmann syndrome
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