Details for Combination OLI859

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; MTOR:c.5863C>T, p.Arg1955Cys in Heterozygous form
GENE COMBINATION MTOR; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 610628; 615271; 614840; 614880; 615269; 615270; 616030; 612370; 618841; 308700; 147950; 614858; 614897; 244200; 614837; 614838; 615266; 615267; 612702
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
01


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