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     
+/+ 5i c.475+1G>T r.spl? p.? Hetero N/A RECLASSIFIED NOVEMBER 2020 Unknown g.32326151G>T - BRCA2_000185 - - DNA SEQ 19-feb-2019 IACA - Known familial mutation N/A Italian - (explica cuadro) Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Silvina Sisterna-Hospital de Comunidad
+/+? 5i c.475+1G>T r.spl? p.? Hetero N/A - Unknown g.32326151G>T - BRCA2_000185 - - DNA CNV, SEQ-NG 26-sep-2018 IACA CNV in genes BRCA1, BRCA2, PALB2, RAD51D, RAD51C, TP53 Multigenetic panel Breast cancer Italian - (antec ambos/explica cuadro) Breast cancer, Ovarian cancer 1 Silvina Sisterna-Hospital de Comunidad
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