Details for Combination OLI1742

VARIANTS ROBO2:c.2431C>T, p.Arg811Trp in Heterozygous form; ROBO4:c.2723G>A, p.Arg908Gln in Heterozygous form
GENE COMBINATION ROBO2; ROBO4
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 109730; 614823
DISEASES Familial bicuspid aortic valve
REFERENCES 36855159
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
00


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