Details for Combination OLI1114

VARIANTS ANOS1:c.563_564delAA, p.Lys188ArgfsTer15 in Hemizygous form; NSMF:c.421G>A, p.Ala141Thr in Heterozygous form
GENE COMBINATION ANOS1; NSMF
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 34348883
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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