Individual #00001361

Ethnic origin Spanish-French-Brazilian-Argentinian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Dolores Mansilla-Instituto Roffo
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer


Stop! No phenotypes found for this individual!



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000001609 DNA SEQ-NG CEMIC - 6-nov-2019 Specific pathology BRCA1, BRCA2 5 Dolores Mansilla-Instituto Roffo
0000001610 DNA MLPA CEMIC CHEK2 1100delC tested 6-nov-2019 Specific pathology BRCA1, BRCA2 - Dolores Mansilla-Instituto Roffo



Variants

5 entries on 1 page. Showing entries 1 - 5.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Dolores Mansilla-Instituto Roffo BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32336191T>C - BRCA2_000003 - - Dolores Mansilla-Instituto Roffo BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32340455C>T - BRCA2_000076 - - Dolores Mansilla-Instituto Roffo BRCA2 11 NM_000059.3:c.6100C>T p.(Arg2034Cys) Hetero no r.(?) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Dolores Mansilla-Instituto Roffo BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Dolores Mansilla-Instituto Roffo BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
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