Details for Combination OLI1379

VARIANTS GNRHR:c.317A>G, p.Gln106Arg in Heterozygous form; GLI3:c.1161del, p.Pro388GlnfsTer13 in Heterozygous form; CCDC141:c.4369G>A, p.Val1457Ile in Heterozygous form
GENE COMBINATION CCDC141; GLI3; GNRHR
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 228300
DISEASES Hypogonadotropic hypogonadism with Fertile Eunuch phenotype
REFERENCES 36407308
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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