Details for Combination OLI201

VARIANTS GNRHR:c.268G>A, p.Glu90Lys in Homozygous form; PROK2:c.349C>T, p.Arg117Trp in Heterozygous form
GENE COMBINATION GNRHR; PROK2
OLIGOGENIC EFFECT Unknown
ETHNICITY Mexican
OMIM IDS 606391; 616329; 600496; 616511; 615269; 606392; 606394; 125851; 609812; 614858; 610508; 614840; 146110; 610628; 614880; 614837; 244200; 614838; 614842; 612702; 612225; 613375; 613370; 125850; 612370; 147950; 614841; 615266; 614839; 308700; 615270
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 25531638
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1111

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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