Details for PROKR2:c.691G>A, p.Glu231Lys

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52831505302504
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE T
TRANSCRIPT N.A.
CDNA CHANGE c.691G>A
PROTEIN CHANGE p.Glu231Lys
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.00.00.001

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
7.954e-060.00.00.00.00.08.794e-060.03.266e-05

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging2.829584Disease causing
DBSNP ID NA
1 combination linked to PROKR2:c.691G>A, p.Glu231Lys OLI1341
1 disease linked to PROKR2:c.691G>A, p.Glu231Lys Kallmann syndrome
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