Full data view for gene BRCA1

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.1674delA r.(?) p.(Gly559Valfs*13) Hetero N/A - Unknown g.43093857delT - BRCA1_000053 - - DNA SEQ-NG, z-score-CNV 23-may-2017 Héritas Panel Héritas (12 genes) - - Spanish - - - 1 Alejandra Mampel-Hospital Universitario de Mendoza
+/+ 11 c.1674delA r.(?) p.(Gly559Valfs*13) Hetero N/A - Unknown g.43093857delT - BRCA1_000053 - - DNA SEQ 20-sep-2017 CEMIC Known familial mutation - - Spanish - - - 1 Pablo Kalfayan-Hospital Italiano
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