Details for Combination OLI1594

VARIANTS IL17RD:c.1136A>G, p.Tyr379Cys in Heterozygous form; FGFR1:c.1042G>A, p.Gly348Arg in Heterozygous form
GENE COMBINATION FGFR1; IL17RD
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 29419413
SCORES
FAMmanual
1

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1222

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
11


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