Details for Combination OLI883

VARIANTS AXL:c.1619A>G, p.Lys540Arg in Heterozygous form; SLIT2:c.2843G>A, p.Gly948Asp in Heterozygous form
GENE COMBINATION AXL; SLIT2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 616030; 147950; 614837; 612370; 614897; 615270; 615266; 244200; 308700; 612702; 615267; 615271; 614880; 610628; 614858; 618841; 614838; 614840
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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