Details for Combination OLI1252

VARIANTS LRP5:c.4488+2T>G, in Heterozygous form; FZD4:c.502C>T, p.Pro11Gln in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 601813; 605750; 617572; 613310; 133780; 305390; 616468
DISEASES Familial exudative vitreoretinopathy
REFERENCES 35328049
SCORES
FAMmanual
1

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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