Details for Combination OLI206

VARIANTS PROKR2:c.518T>G, p.Leu173Arg in Heterozygous form; ANOS1:p.Arg423Ter in Hemizygous form
GENE COMBINATION ANOS1; PROKR2
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 20022991
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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