Details for Combination OLI1296

VARIANTS FGFR1:c.263T>G, p.Val88Gly in Heterozygous form; FEZF1:c.253A>G, p.Ser85Gly in Heterozygous form; GNRHR:c.317A>G, p.Gln106Arg in Heterozygous form
GENE COMBINATION FEZF1; FGFR1; GNRHR
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
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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