Details for Combination OLI779

VARIANTS FGFR1:p.Thr695Ile in Heterozygous form; FGF8:c.451G>A, p.Gly151Ser in Heterozygous form
GENE COMBINATION FGF8; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY South Asian
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 26708526
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0323

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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