Details for Combination OLI020

VARIANTS CHD7:c.7198C>T, p.Arg2390Trp in Heterozygous form; PROP1:p.Arg112Gln in Heterozygous form
GENE COMBINATION CHD7; PROP1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 32982993
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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