Details for Combination OLI1016

VARIANTS ANOS1:c.1524delA, p.Ser509ValfsTer40 in Heterozygous form; PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form
GENE COMBINATION ANOS1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614858; 610508; 244200; 616329; 612370; 615270; 606391; 308700; 146110; 606394; 616511; 606392; 612225; 614842; 614841; 125850; 609812; 614880; 614838; 614839; 613370; 125851; 600496; 614840; 613375; 612702; 615266; 614837; 615269; 610628; 147950
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 35090434
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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