Details for Combination OLI446

VARIANTS SLC7A14:c.1391G>T, p.Cys464Phe in Heterozygous form; PRPF31:c.358_359del, p.Lys120GlufsTer4 in Heterozygous form
GENE COMBINATION PRPF31; SLC7A14
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 32100970
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00
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