Details for Combination OLI1279

VARIANTS TACR3:c.238+1G>C, in Heterozygous form; FLRT3:c.1134A>C, p.Gln378His in Heterozygous form
GENE COMBINATION FLRT3; TACR3
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615270; 612225; 244200; 614837; 610508; 614840; 610628; 146110; 308700; 125851; 614839; 609812; 616511; 613370; 612370; 614841; 614880; 614842; 606391; 606394; 614858; 612702; 615269; 616329; 606392; 600496; 125850; 147950; 615266; 613375; 614838
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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