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 615266; 614842; 308700; 244200; 612225; 614841; 614839; 616329; 600496; 615270; 614837; 606394; 615269; 606392; 613370; 614840; 146110; 614838; 616511; 610628; 612702; 606391; 610508; 125851; 609812; 612370; 125850; 613375; 147950; 614858; 614880
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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