Unique variants in the BAP1 gene

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

10 entries on 1 page. Showing entries 1 - 10.
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Effect     

Reported     

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 3i c.123-3C>T p.? Hetero no r.spl? - g.52408609G>A - BAP1_000009 - - Silvina Sisterna-Hospital de Comunidad
?/? 1 9 c.747G>T p.(Lys249Asn) Hetero no r.(747g>u) - g.52406289C>A - BAP1_000010 - - Lina Nuñez-Hospital Alemán
?/? 1 11 c.1058T>C p.(Ile353Thr) Hetero BRCA2 r.(?) - g.52405168A>G - BAP1_000006 - - Dolores Mansilla-Instituto Roffo
?/? 1 12 c.1147C>T p.(Arg383Cys) Hetero ATM r.(?) - g.52404556G>A - BAP1_000003 - - Jesica Ramirez-Hospital Central de Mendoza
?/? 1 13 c.1421C>T p.(Pro474Leu) Hetero no r.(?) - g.52403724G>A - BAP1_000004 - - Dolores Mansilla-Instituto Roffo
?/-? 1 13 c.1441C>A p.(His481Asn) Hetero CHEK2 r.(?) RECLASSIFIED JULY 2022 g.52403704G>T - BAP1_000002 - - Lina Nuñez-Private Practice
?/? 1 13 c.1553G>A p.(Arg518Gln) Hetero no r.(?) - g.52403592C>T - BAP1_000008 - - Carolina Ponce-Instituto Fleming
?/? 1 13 c.1651C>G p.(Arg551Gly) Hetero no r.(?) - g.52403494G>C - BAP1_000007 - - Carolina Ponce-Instituto Fleming
?/? 1 14 c.1769A>T p.(Gln590Leu) Hetero no r.(?) - g.52403259T>A - BAP1_000001 - - Lina Nuñez-Private Practice
?/? 1 14 c.1868G>A p.(Ser623Asn) Hetero no r.(?) - g.52403160C>T - BAP1_000005 - - Silvina Sisterna-Hospital de Comunidad
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