Details for Combination OLI650

VARIANTS PLXNA1:c.1606G>A, p.Val536Ile in Heterozygous form; HS6ST1:c.187C>G, p.His63Asp in Heterozygous form
GENE COMBINATION HS6ST1; 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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