Details for Combination OLI1115

VARIANTS WDR11:c.3449T>C, p.Phe1150Ser in Heterozygous form; SEMA3A:c.539T>G, p.Leu180Arg in Heterozygous form
GENE COMBINATION SEMA3A; WDR11
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 34348883
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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