Full data view for gene PALB2

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

2 entries on 1 page. Showing entries 1 - 2.
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Effect     

Exon     

AscendingDNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     

Allele     

DNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Template     

Technique     

Date of test     

Lab     

Remarks     

Type of test     

Disease     

Ethnic origin     

Reference     

Remarks     

Cuadro familiar     

Panel size     

Owner     
./+ 4 c.1240C>T p.(Arg414*) Hetero N/A r.(?) - Unknown g.23635306G>A - PALB2_000031 - - DNA SEQ 23-mar-2020 Biogenotec Sanger Mutación puntual PALB2 y TP53 Specific pathology - unknown - - - 1 Alejandra Mampel-COIR
+/+ 4 c.1240C>T p.(Arg414*) Hetero P53 r.(?) - Unknown g.23635306G>A - PALB2_000031 - - DNA SEQ-NG 29-oct-2020 Biogenotec Panel Cáncer de mama y ovario DE 14 GENES (ATM, BRCA1, BRCA2, BRIP1, CHEK2, MLH1, MSH2, MSH6, NBN,PALB2, PMS2, PTEN, STK11, TP53) Multigenetic panel - Spanish; Spanish - - - 1 Alejandra Mampel-COIR
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