Details for PROKR2:c.169G>T, p.Gly57Cys

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52948475314201
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE A
TRANSCRIPT N.A.
CDNA CHANGE c.169G>T
PROTEIN CHANGE p.Gly57Cys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00010740.00.00.00.00092420.08.79e-060.00.000294

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
ToleratedDamaging2.887948Polymorphism
DBSNP ID NA
1 combination linked to PROKR2:c.169G>T, p.Gly57Cys OLI1342
1 disease linked to PROKR2:c.169G>T, p.Gly57Cys Kallmann syndrome
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