Details for Combination OLI912

VARIANTS CHD7:c.2656C>T, p.Arg886Trp in Heterozygous form; PLXNA1:c.2803G>A, p.Ala935Thr in Heterozygous form
GENE COMBINATION CHD7; PLXNA1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 606391; 612225; 615269; 606392; 244200; 606394; 614880; 616511; 613370; 614837; 615270; 612702; 614838; 125850; 614839; 614840; 615266; 600496; 609812; 614841; 613375; 146110; 147950; 610628; 612370; 610508; 616329; 614842; 614858; 308700; 125851
DISEASES Normosmic congenital hypogonadotropic hypogonadism
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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