Details for Combination OLI864

VARIANTS PROKR2:c.238delC, p.Arg80AlafsTer82 in Heterozygous form; DLX5:c.505G>A, p.Glu169Lys in Heterozygous form
GENE COMBINATION DLX5; PROKR2
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 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.