Details for Combination OLI876

VARIANTS ANOS1:p.Trp589Ter in Heterozygous form; RELN:c.4441A>C, p.Lys1481Gln in Heterozygous form
GENE COMBINATION ANOS1; RELN
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615269; 616030; 147950; 614837; 612370; 614897; 615270; 615266; 244200; 308700; 612702; 615267; 615271; 614880; 610628; 614858; 618841; 614838; 614840
DISEASES Kallmann syndrome
REFERENCES 30098700
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
111

FUN
manualmeta
01

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.