Details for Combination OLI1286

VARIANTS SEMA3A:c.458A>G, p.Asn153Ser in Heterozygous form; FGF8:c.98G>T, p.Gly33Val in Heterozygous form
GENE COMBINATION FGF8; SEMA3A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
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 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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