Details for Combination OLI856

VARIANTS ANOS1:c.1678G>A, p.Val560Ile in Heterozygous form; NRP2:c.1333A>C, p.Ile445Leu in Heterozygous form; SEMA4D:c.1544C>T, p.Ala515Val in Homozygous form
GENE COMBINATION ANOS1; NRP2; SEMA4D
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 612702; 614858; 308700; 614897; 618841; 244200; 615270; 616030; 610628; 147950; 615269; 614838; 614880; 615266; 612370; 615267; 614840; 615271; 614837
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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