Details for Combination OLI511

VARIANTS ANOS1:c.488_490delGTT, p.Cys164del in Hemizygous form; NSMF:c.757G>A, p.Ala253Thr in Heterozygous form
GENE COMBINATION ANOS1; NSMF
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615269; 308700; 614837; 616030; 615270; 614880; 618841; 244200; 615271; 147950; 615267; 614858; 610628; 612702; 614897; 614838; 615266; 614840; 612370
DISEASES Kallmann syndrome
REFERENCES 21300340
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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