Details for Combination OLI1285

VARIANTS FGFR1:c.888T>A, p.Asn296Lys in Heterozygous form; SEMA3A:c.458A>G, p.Asn153Ser in Heterozygous form
GENE COMBINATION FGFR1; SEMA3A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614838; 308700; 614837; 147950; 618841; 612370; 615266; 615270; 615271; 614897; 616030; 614858; 610628; 614880; 244200; 615269; 615267; 614840; 612702
DISEASES Kallmann syndrome
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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