Details for Combination OLI876

VARIANTS ANOS1:p.Trp589Ter in Heterozygous form; RELN:c.4441A>C, p.Lys1481Gln in Heterozygous form
GENE COMBINATION ANOS1; RELN
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 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


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