Details for Combination OLI836

VARIANTS PROKR2:c.533G>C, p.Trp178Ser in Heterozygous form; CHD7:c.6955C>T, p.Arg2319Cys in Heterozygous form
GENE COMBINATION CHD7; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 28833369; 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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