Details for Combination OLI910

VARIANTS SEMA7A:c.114G>T, p.Trp38Cys in Heterozygous form; SLIT2:c.4488G>T, p.Arg1496Ser in Heterozygous form
GENE COMBINATION SEMA7A; SLIT2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614880; 616329; 614841; 612225; 610508; 612702; 606394; 615270; 614837; 244200; 615269; 613370; 614842; 609812; 606392; 613375; 147950; 614858; 612370; 616511; 614838; 610628; 614840; 614839; 600496; 308700; 606391; 125850; 615266; 146110; 125851
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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