Details for Combination OLI653

VARIANTS PLXNA1:c.955C>T, p.Arg319Trp in Heterozygous form; POLR3A:c.397G>A, p.Gly133Ser in Heterozygous form
GENE COMBINATION PLXNA1; POLR3A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 30467832
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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