All variants in the RB1 gene

Information The variants shown are described using the NM_000321.2 transcript reference sequence.

6 entries on 1 page. Showing entries 1 - 6.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     
?/? 1 c.59C>T p.(Pro20Leu) Hetero no r.(59c>u) - g.48303971C>T - RB1_000006 rs587778637 - Pablo Kalfayan-Hospital Italiano
?/? 18 c.1790A>G (p.Gln597Arg) Hetero no r.(1790a>g) - g.48453087A>G - RB1_000005 - - Lina Nuñez-Private Practice
?/+? 20 c.1961T>A p.(Val654Glu) Hetero no r.(?) - g.48459688T>A - RB1_000003 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 20 c.1964A>G p.(Tyr655Cys) Hetero no r.(?) - g.48459691A>C - RB1_000004 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 20 c.1991C>T p.(Thr664Ile) Hetero no r.(?) - g.48459718C>T - RB1_000001 - - Jesica Ramirez-Hospital Central de Mendoza
-/- 25i c.2664-10T>A p.(=) Hetero no r.(=) - g.48477345T>A - RB1_000002 - - Lina Nuñez-Private Practice
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