Details for Combination OLI1651

VARIANTS PROK2:c.163del, p.Ile55Ter in Heterozygous form; CHD7:c.576T>A, p.Tyr192Ter in Heterozygous form
GENE COMBINATION CHD7; PROK2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Congenital hypogonadotropic hypogonadism
REFERENCES 37108593
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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