Details for Combination OLI1381

VARIANTS FGFR1:c.1279G>T, p.Val427Leu in Heterozygous form; RAB3GAP2:c.590G>A, p.Arg197Gln in Heterozygous form
GENE COMBINATION FGFR1; RAB3GAP2
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with Fertile Eunuch phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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