Details for Combination OLI428

VARIANTS GNRHR:c.662T>A, p.Ile221Asn in Heterozygous form; GLI3:c.245G>A, p.Arg82Lys in Heterozygous form
GENE COMBINATION GLI3; GNRHR
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614838; 308700; 614837; 147950; 618841; 612370; 615266; 615270; 615271; 614897; 616030; 614858; 610628; 614880; 244200; 615269; 615267; 614840; 612702
DISEASES Kallmann syndrome
REFERENCES 27502037
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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