Details for Combination OLI310

VARIANTS LRP5:c.2306T>A, p.Leu769His in Heterozygous form; TSPAN12:c.194C>T, p.Pro65Leu in Heterozygous form
GENE COMBINATION LRP5; TSPAN12
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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