Details for Combination OLI890

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; LHB:c.364G>A, p.Gly122Ser in Heterozygous form
GENE COMBINATION LHB; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 616511; 612702; 610508; 614840; 613375; 612370; 614880; 616329; 125851; 615266; 600496; 125850; 610628; 147950; 606392; 308700; 615269; 244200; 614839; 606394; 609812; 613370; 614842; 612225; 614841; 614858; 606391; 146110; 615270; 614837; 614838
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


Found any issues with the data on this page? Report this entry.