Details for Combination OLI847

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; CHD7:c.7235A>T, p.Glu2412Val in Heterozygous form
GENE COMBINATION CHD7; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 618841; 615269; 614858; 615271; 615267; 614840; 610628; 614880; 614837; 614897; 244200; 614838; 612702; 616030; 612370; 147950; 615266; 308700; 615270
DISEASES Kallmann syndrome
REFERENCES 33208564
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0202

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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