Full data view for gene BRCA2

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)     

RNA change     

Protein     

Zygosity     

Co_ocurrence     

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     
+/+ 11 c.6082_6086del r.(?) p.(Glu2028Lysfs*19) Hetero N/A - Unknown g.32340437_32340441del - BRCA2_000208 - - DNA SEQ-NG 10-oct-2019 Biogenotec Panel Multigénico (21 genes) APC, ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN,NF1, PALB2, PMS2, PTEN, RAD51C, RAD51D, STK11, TP53 Multigenetic panel - Italian - - - 1 Laura Vargas Roig-IMBECU
+/+ 11 c.6082_6086del r.(?) p.(Glu2028Lysfs*19) Hetero N/A - Unknown g.32340437_32340441del - BRCA2_000208 - - DNA SEQ 19-05-22 HEMA Knwon familial mutation BRCA2 c.6082_6086del / p.(Glu2028fs) Known familial mutation N/A Italian - Italian - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Laura Vargas Roig-IMBECU
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