Details for Combination OLI1257

VARIANTS LRP5:c.4565C>T, p.Pro1522Leu in Heterozygous form; FZD4:c.1221_1223del, p.Ala408del in Heterozygous form
GENE COMBINATION FZD4; LRP5
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
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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