Details for Combination OLI205

VARIANTS PROKR2:c.518T>G, p.Leu173Arg in Heterozygous form; ANOS1:p.Ser396Leu in Hemizygous form
GENE COMBINATION ANOS1; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612702; 614838; 615267; 615270; 147950; 614840; 618841; 610628; 615269; 308700; 614858; 616030; 614880; 615266; 612370; 244200; 614837; 614897; 615271
DISEASES Kallmann syndrome
REFERENCES 20022991
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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