Details for Combination OLI868

VARIANTS IL17RD:c.1592G>T, p.Arg531Met in Heterozygous form; PROKR2:c.239G>A, p.Arg80His in Heterozygous form
GENE COMBINATION IL17RD; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615266; 618841; 616030; 308700; 614897; 244200; 615270; 614837; 615267; 615269; 614840; 614838; 610628; 612702; 612370; 147950; 614858; 615271; 614880
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0101

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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