Details for Combination OLI1287

VARIANTS ANOS1:c.226delT, p.Trp76GlyfsTer21 in Hemizygous form; SEMA7A:c.1462G>C, p.Val488Leu in Heterozygous form
GENE COMBINATION ANOS1; SEMA7A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614838; 615270; 614837; 612702; 610628; 614880; 615267; 147950; 615271; 614897; 614840; 615269; 244200; 612370; 308700; 616030; 614858; 615266; 618841
DISEASES Kallmann syndrome
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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