Details for Combination OLI895

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; KISS1R:c.587C>A, p.Pro196His in Heterozygous form
GENE COMBINATION KISS1R; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 147950; 244200; 614839; 614841; 614837; 606394; 610508; 616329; 614880; 612702; 125850; 613375; 609812; 613370; 615266; 606391; 125851; 610628; 614840; 146110; 612225; 615269; 614842; 600496; 614838; 612370; 614858; 615270; 616511; 606392; 308700
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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