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 618841; 615269; 614858; 615271; 615267; 614840; 610628; 614880; 614837; 614897; 244200; 614838; 612702; 616030; 612370; 147950; 615266; 308700; 615270
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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