Details for Combination OLI249

VARIANTS FOXC1:c.379C>T, p.Arg127Cys in Heterozygous form; DPT:c.446A>G, p.Tyr149Cys in Heterozygous form
GENE COMBINATION DPT; FOXC1
OLIGOGENIC EFFECT True Digenic
ETHNICITY Lebanese
OMIM IDS 600975; 617272; 613085; 231300; 613086
DISEASES Congenital glaucoma
REFERENCES 28979898
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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