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 615269; 618841; 244200; 615267; 614880; 614837; 615270; 612702; 614838; 615271; 614840; 615266; 616030; 147950; 610628; 612370; 614858; 308700; 614897
DISEASES Kallmann syndrome
REFERENCES 35669683
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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