Details for Combination OLI1343

VARIANTS IL17RD:c.1319G>T, p.Gly440Val in Heterozygous form; GLI3:c.1930G>A, p.Gly644Arg in Heterozygous form
GENE COMBINATION GLI3; IL17RD
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 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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