Details for PROKR2:c.533G>C, p.Trp178Ser

CHROMOSOME 20
GENOMIC COORDINATES
hg19hg38
52833085302662
VARIANT EFFECT missense
ANNOTATION FLAG automatically_attributed
GENE PROKR2
REFERENCE ALLELE C
ALTERNATE ALLELE G
TRANSCRIPT NM_144773.3
CDNA CHANGE c.533G>C
PROTEIN CHANGE p.Trp178Ser
ALLELE FREQUENCY
1KGP
GlobalAFRAMREASEURSAS
0.00020.00.00.0010.00.0

Gnomad
GlobalAFRAMRASJEASFINNFEOTHSAS
0.00022270.02.891e-050.00.0029360.00.00.0001630.0

ESP
AAEA
NoneNone
PREDICTORS
siftpp2 hvarcaddmutationtaster
DeleteriousDamaging3.999773Disease causing
DBSNP ID rs201835496
18 combinations linked to PROKR2:c.533G>C, p.Trp178Ser OLI833; OLI836; OLI848; OLI851; OLI855; OLI859; OLI862; OLI890; OLI892; OLI895; OLI899; OLI900; OLI1016; OLI1337; OLI1338; OLI1356; OLI834; OLI847
2 diseases linked to PROKR2:c.533G>C, p.Trp178Ser Normosmic congenital hypogonadotropic hypogonadism; Kallmann syndrome
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