Details for Combination OLI652

VARIANTS PLXNA1:c.5550C>A, p.Ser1850Arg in Heterozygous form; FGFR1:c.1065G>A, p.Trp355Ter in Heterozygous form; NRP1:c.2222G>A, p.Arg741His in Heterozygous form
GENE COMBINATION FGFR1; NRP1; PLXNA1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 30467832
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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