Details for Combination OLI012

VARIANTS CYP1B1:c.685G>A, p.Glu229Lys in Heterozygous form; TEK:c.2228G>C, p.Gly743Ala in Heterozygous form
GENE COMBINATION CYP1B1; TEK
OLIGOGENIC EFFECT True Digenic
ETHNICITY Unknown
OMIM IDS 613085; 613086; 600975; 231300; 617272
DISEASES Congenital glaucoma
REFERENCES 28620713
SCORES
FAMmanual
2

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
33


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