Details for Combination OLI311

VARIANTS LRP5:c.4517C>T, p.Thr1506Met in Heterozygous form; TSPAN12:c.535G>T, p.Asp179Tyr in Heterozygous form
GENE COMBINATION LRP5; TSPAN12
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 616468; 133780; 613310; 305390; 601813; 617572; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.