Details for Combination OLI498

VARIANTS ANOS1:c.1464A>G, p.Thr472Ala in Heterozygous form; PROKR2:c.151G>A, p.Ala51Thr in Heterozygous form
GENE COMBINATION ANOS1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 147950; 244200; 614839; 614841; 614837; 606394; 610508; 616329; 614880; 612702; 125850; 613375; 609812; 613370; 615266; 606391; 125851; 610628; 614840; 146110; 612225; 615269; 614842; 600496; 614838; 612370; 614858; 615270; 616511; 606392; 308700
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 21209029
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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