Details for Combination OLI862

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; ROBO3:c.3742C>T, p.Arg1248Ter in Heterozygous form
GENE COMBINATION PROKR2; ROBO3
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614838; 615270; 614837; 612702; 610628; 614880; 615267; 147950; 615271; 614897; 614840; 615269; 244200; 612370; 308700; 616030; 614858; 615266; 618841
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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