Details for Combination OLI1213

VARIANTS PROKR2:c.868C>T, p.Pro290Ser in Homozygous form; CCDC141:c.2803C>T, p.Arg935Trp in Homozygous form
GENE COMBINATION CCDC141; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 615269; 308700; 614837; 616030; 615270; 614880; 618841; 244200; 615271; 147950; 615267; 614858; 610628; 612702; 614897; 614838; 615266; 614840; 612370
DISEASES Kallmann syndrome
REFERENCES 34539727
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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