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     
?/? 10 c.3433G>T r.(3433g>u) p.(Val1145Phe) Hetero no - Unknown g.43092098C>A - BRCA1_000201 - - DNA SEQ-NG 26-12-22 Fundación para el Progreso de la Medicina Hereditay custom cancer panel: APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, BUB1B, CDC73, CDH1, CEP57, CHEK2, DICER1, EPCAM, FANCC, FLCN, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS1, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, SMAD4, STK11, TP53 Multigenetic panel Breast cancer Spanish-Spanish/Spanish-Spanish - - Breast cancer, Colon cancer 1 Norma Rossi - Sanatorio Allende
?/? 10 c.3433G>T r.(3433g>u) p.(Val1145Phe) Hetero no - Unknown g.43092098C>A - BRCA1_000201 - - DNA SEQ-NG, CNV 20-03-23 Fundación para el Progreso de la Medicina Breast and ovarian cancer panel (28 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1,CDK4,CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1,POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. Multigenetic panel N/A spanish/spanish - Spanish/spanish - - Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes 1 Norma Rossi - Sanatorio Allende
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