Details for Combination OLI911

VARIANTS LHB:c.262C>T, p.Arg88Trp in Heterozygous form; GHR:c.1855A>G, p.Lys619Glu in Heterozygous form
GENE COMBINATION GHR; LHB
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 612225; 614837; 244200; 125850; 614842; 615269; 606394; 614841; 125851; 600496; 614880; 615270; 616329; 147950; 614858; 606391; 606392; 146110; 616511; 615266; 609812; 613370; 308700; 614839; 610508; 610628; 614838; 612370; 612702; 614840; 613375
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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