Details for Combination OLI289

VARIANTS SEMA3A:c.2062A>G, p.Thr688Ala in Heterozygous form; ANOS1:p.Tyr217Asp in Heterozygous form
GENE COMBINATION ANOS1; SEMA3A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 618841; 615269; 614858; 615271; 615267; 614840; 610628; 614880; 614837; 614897; 244200; 614838; 612702; 616030; 612370; 147950; 615266; 308700; 615270
DISEASES Kallmann syndrome
REFERENCES 22927827
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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