Details for PROKR2:c.916G>A, p.Val306Met

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52829255302279
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT NM_144773.4
CDNA CHANGE c.916G>A
PROTEIN CHANGE p.Val306Met
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00140.00.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
2.386e-050.02.891e-050.05.437e-050.02.637e-050.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedPossibly Damaging3.134409Disease causing
DBSNP ID NA
1 combination linked to PROKR2:c.916G>A, p.Val306Met OLI1281
1 disease linked to PROKR2:c.916G>A, p.Val306Met Normosmic congenital hypogonadotropic hypogonadism

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