Details for Combination OLI780

VARIANTS GNRHR:p.Thr269Met in Heterozygous form; KISS1R:p.Gly56AlafsTer21 in Heterozygous form
GENE COMBINATION GNRHR; KISS1R
OLIGOGENIC EFFECT Unknown
ETHNICITY South Asian
OMIM IDS 614838; 613375; 308700; 616329; 614837; 147950; 612370; 610508; 615266; 600496; 615270; 613370; 146110; 606394; 609812; 606392; 614839; 614858; 125850; 614841; 610628; 614880; 244200; 125851; 615269; 606391; 612225; 616511; 614842; 614840; 612702
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 26708526
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
101

FUN
manualmeta
01

FINAL
manualmeta
00


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