Details for Combination OLI011

VARIANTS TEK:p.Gln214Pro in Heterozygous form; CYP1B1:c.685G>A, p.Glu229Lys 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
313

FUN
manualmeta
33

FINAL
manualmeta
33


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