Details for Combination OLI1256

VARIANTS LRP5:c.1999G>A, p.Val667Met in Heterozygous form; LRP5:c.3989C>T, p.Ala1330Val in Heterozygous form; ZNF408:c.581_592del, p.Val194_Val197del in Heterozygous form
GENE COMBINATION LRP5; ZNF408
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 35328049
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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