Details for Combination OLI886

VARIANTS DCAF17:c.579C>A, p.Phe193Leu in Heterozygous form; RELN:c.5023C>G, p.Pro1675Ala in Heterozygous form
GENE COMBINATION DCAF17; RELN
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
111

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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