Full data view for gene BRCA1

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

4 entries on 1 page. Showing entries 1 - 4.
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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.1817del r.(?) p.(Pro606Leufs*6) Hetero N/A - Unknown g.43093714del - BRCA1_000220 - - DNA MLPA, SEQ-NG 6-jun-2017 Argenomics Interpretation of results by CEMIC - - Bolivian - - - 1 Dolores Mansilla-Instituto Roffo
+/+ 11 c.1817del r.(?) p.(Pro606Leufs*6) Hetero N/A - Unknown g.43093714del - BRCA1_000220 - - DNA MLPA, SEQ-NG 21-feb-2017 CEMIC - - Ovarian cancer Argentinian-Bolivian - - Breast cancer, Ovarian cancer 1 Jesica Ramirez-Hospital Central de Mendoza
+/+ 11 c.1817del r.(?) p.(Pro606Leufs*6) Hetero N/A - Unknown g.43093714del - BRCA1_000220 - - DNA SEQ-NG 6-jun-2017 Argenomics - Specific pathology -- Unknown - CIA (antec pnales/explica cuadro clínico) - 1 Angeles Nico-Instituto Roffo
+/+ 11 c.1817del r.(?) p.(Pro606Leufs*6) Hetero N/A - Unknown g.43093714del - BRCA1_000220 - - DNA SEQ-NG 31-aug-2022 GENDA, COLOR Panel (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLE, POLD1, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel Ovarian cancer Bolivian/bolivian - - Ovarian cancer 1 Jesica Ramirez-Hospital Central de Mendoza
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