Details for Combination OLI869

VARIANTS NRP2:c.1333A>C, p.Ile445Leu in Heterozygous form; CHD7:c.30del, p.Phe10LeufsTer25 in Heterozygous form; PLXNB1:c.4740C>A, p.His1580Gln in Heterozygous form
GENE COMBINATION CHD7; NRP2; PLXNB1
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 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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