Details for Combination OLI456

VARIANTS FGFR1:c.854C>G, p.Pro285Arg in Heterozygous form; ANOS1:c.1464A>G, p.Thr472Ala in Heterozygous form
GENE COMBINATION ANOS1; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612702; 614837; 615266; 615271; 614838; 308700; 616030; 615270; 618841; 612370; 147950; 614840; 614880; 614897; 615269; 615267; 244200; 610628; 614858
DISEASES Kallmann syndrome
REFERENCES 21209029
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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