Details for Combination OLI1593

VARIANTS FGFR1:c.1430+1delG, in Heterozygous form; CHD7:c.1105C>G, p.Pro369Ala in Heterozygous form
GENE COMBINATION CHD7; FGFR1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 29419413
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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