Details for Combination OLI1801

VARIANTS GNRH1:c.91C>T, p.Arg31Cys in Heterozygous form; AMHR2:c.1330_1356del, p.Gly445_Leu453del in Heterozygous form
GENE COMBINATION AMHR2; GNRH1
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 37372384
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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