Full data view for gene BRCA2

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

5 entries on 1 page. Showing entries 1 - 5.
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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.5249C>T r.(?) p.(Ser1750Phe) Hetero BRCA2 - Unknown g.32339604C>T - BRCA2_000075 - - DNA SEQ-NG 2-may-2017 Sanatorio Allende Breast Cancer Panel - Breast cancer, Ovarian cancer Italian - - Breast cancer, Ovarian cancer 1 Norma Rossi-Hospital de Córdoba
?/? 11 c.5249C>T r.(?) p.(Ser1750Phe) Hetero BRCA2 - Unknown g.32339604C>T - BRCA2_000075 - - DNA SEQ-NG, CNV 13-dec-2017 GENDA, COLOR Hereditary Cancer Risk Test (30 genes) Multigenetic panel -- Italian - - - 1 Cecilia Montes-IMGO
?/? 11 c.5249C>T r.(?) p.(Ser1750Phe) Hetero BRCA2 - Unknown g.32339604C>T - BRCA2_000075 - - DNA SEQ-NG 20-dic-2017 Hospital Privado Centro Médico de Córdoba - - Breast cancer Italian - - Breast cancer, Lung cancer 1 Claudia Martin-Hospital de Córdoba
?/-? 11 c.5249C>T r.(?) p.(Ser1750Phe) Hetero BRCA2 RECLASSIFIED JUNE 2019 Unknown g.32339604C>T - BRCA2_000075 - - DNA SEQ 2-may-2018 Hospital Privado Centro Médico de Córdoba - Known familial mutation -- Italian - MF (explica cuadro) - 1 Cecilia Montes-IMGO
?/? 11 c.5249C>T r.(?) p.(Ser1750Phe) Hetero BRCA2 - Unknown g.32339604C>T - BRCA2_000075 - - DNA SEQ-NG 27-jul-2021 Hospital Privado Centro Médico de Córdoba Panel Cancer mama y Ovario (29 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP54 Multigenetic panel Breast cancer Italian - - Breast cancer, Colon cancer, Ovarian cancer 1 Claudia Martin-Hospital de Córdoba
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