Details for PROKR2:c.563C>T, p.Ser188Leu

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52832785302632
VARIANT EFFECT None
ANNOTATION FLAG None
GENE PROKR2
REFERENCE ALLELE G
ALTERNATE ALLELE A
TRANSCRIPT NM_144773.4
CDNA CHANGE c.563C>T
PROTEIN CHANGE p.Ser188Leu
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
NoneNoneNoneNoneNoneNone

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
1.193e-050.0001230.00.05.437e-050.00.00.00.0

ESP
AAEA
0.0002270.0
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousPossibly Damaging3.356546Disease causing
DBSNP ID rs376239580
1 combination linked to PROKR2:c.563C>T, p.Ser188Leu OLI1109
1 disease linked to PROKR2:c.563C>T, p.Ser188Leu Kallmann syndrome
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