Details for Combination OLI1428

VARIANTS FGFR1:c.764C>T, p.Pro255Leu in Heterozygous form; AXL:c.2119C>T, p.Arg707Cys in Heterozygous form
GENE COMBINATION AXL; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with absent puberty phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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