All variants in the PALB2 gene

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

35 entries on 1 page. Showing entries 1 - 35.
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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     
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Patricia Quaglio-Consultorio AGO Lab CIGEN
+/+ 4 c.1653T>A p.(Tyr551*) Hetero BRCA2 r.(?) - g.23634893A>T - PALB2_000001 - - Alvaro Yanzi-Instituto San Marcos
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Cecilia Montes-IMGO
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Lina Nuñez-Hospital Alemán
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-COIR
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Silvina Sisterna-Hospital de Comunidad
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Norma Rossi-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Maria Cecilia Riggi-Hospital Italiano
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Carolina Ponce-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Carolina Ponce-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto Fleming
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Cecilia Montes-IMGO
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Laura Vargas Roig-IMBECU
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Laura Vargas Roig-IMBECU
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero CHEK2 r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Claudia Martin-Hospital de Córdoba
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Jesica Ramirez-Hospital Central de Mendoza
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Norma Rossi - Sanatorio Allende
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Silvina Sisterna-Hospital de Comunidad
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(1653u>a) - g.23634893A>T - PALB2_000001 - - Norma Rossi - Sanatorio Allende
+/+ 4 c.1653T>A p.(Tyr551*) Hetero N/A r.(?) - g.23634893A>T - PALB2_000001 - - Laura Vargas Roig-IMBECU
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