Details for Combination OLI1282

VARIANTS TACR3:c.799T>C, p.Tyr267His in Heterozygous form; CHD7:c.2675G>A, p.Arg892His in Heterozygous form
GENE COMBINATION CHD7; TACR3
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612370; 610628; 615269; 614839; 600496; 244200; 614840; 615270; 308700; 613375; 614842; 606392; 616511; 606391; 609812; 615266; 614838; 146110; 610508; 612225; 606394; 125850; 612702; 613370; 616329; 614880; 614837; 614841; 614858; 125851; 147950
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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