Details for Combination OLI1108

VARIANTS PROKR2:c.337T>C, p.Tyr113His in Heterozygous form; IL17RD:c.2101G>A, p.Gly701Ser in Heterozygous form
GENE COMBINATION IL17RD; PROKR2
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 34348883
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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