Details for Combination OLI552

VARIANTS USH2A:c.1000C>T, p.Arg334Trp in Heterozygous form; USH2A:c.12560G>A, p.Arg4187His in Heterozygous form; PDZD7:c.1543C>T, p.Gln515Ter in Heterozygous form; ADGRV1:c.13165_13166insTGGAACTCCAGGAGGG, p.Ile4389MetfsTer11 in Heterozygous form
GENE COMBINATION ADGRV1; PDZD7; USH2A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 312612; 618195; 612165; 613810; 610282; 613750; 618173; 613758; 613428; 618826; 180100; 312600; 400004; 615434; 604393; 602594; 617781; 617304; 600138; 613769; 616544; 610359; 604232; 612712; 618345; 606068; 618220; 608133; 617123; 609923; 616562; 610599; 614500; 613617; 618613; 615565; 616469; 601718; 615780; 613731; 600132; 180105; 617433; 613827; 602772; 613767; 601414; 612572; 613809; 617023; 613756; 618697; 300605; 613801; 613862; 609913; 600105; 607921; 613861; 613582; 613794; 616394; 600852; 615725; 180104; 268025; 614180; 608380; 613464; 613341; 614494; 611131; 300424; 268000; 613983; 612095; 617460; 268060; 613660; 616188; 600059; 613581; 615233; 615922; 300029; 300155; 613194; 612943; 614181; 613575; 180210
DISEASES Retinitis pigmentosa
REFERENCES 32050993
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00
Found any issues with the data on this page? Report this entry.