Details for Combination OLI1251

VARIANTS KIF11:c.386A>C, p.Glu129Ala in Heterozygous form; LRP5:c.3989C>T, p.Ala1330Val in Homozygous form
GENE COMBINATION KIF11; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 616468; 133780; 613310; 305390; 601813; 617572; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 35328049
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
01


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