Details for Combination OLI1298

VARIANTS ANOS1:c.1468C>T, p.Gln490Ter in Hemizygous form; SPRY4:c.622delG, p.Glu208SerfsTer74 in Heterozygous form
GENE COMBINATION ANOS1; SPRY4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615266; 618841; 616030; 308700; 614897; 244200; 615270; 614837; 615267; 615269; 614840; 614838; 610628; 612702; 612370; 147950; 614858; 615271; 614880
DISEASES Kallmann syndrome
REFERENCES 36531499
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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