Details for Combination OLI1214

VARIANTS PROKR2:c.614_616del, p.Lys205del in Heterozygous form; SEMA7A:c.1801G>A, p.Glu601Lys in Heterozygous form; DUSP6:c.340G>T, in Homozygous form
GENE COMBINATION DUSP6; PROKR2; SEMA7A
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 600496; 147950; 614842; 614880; 615270; 612370; 610508; 610628; 606394; 616511; 614841; 125851; 614839; 613375; 614840; 612702; 146110; 614858; 125850; 308700; 615266; 615269; 613370; 616329; 606391; 244200; 612225; 609812; 606392; 614837; 614838
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 34539727
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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