Full data view for gene BRCA1

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

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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.1175_1214del r.(?) p.(Leu392Glnfs*5) Hetero N/A - Unknown g.43094317_43094356del - BRCA1_000189 - - DNA SEQ-NG 24-dec-2018 Myriad MyRisk (33 genes) APC, ATM, AXIN2, BARD1,BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p16 and p14ARF), CHEK2, GALNT12, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RNF43, RPS20, SMAD4,STK11, TP53. HOXB13, POLD1 and POLE Multigenetic panel -- Irish - - - 1 Angeles Nico-Instituto Roffo
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