Individual #00000729

Ethnic origin Polish-Ashkenazi
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer
Owner name Lina Nuñez-Hospital Alemán
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     
0000000849 DNA SEQ Alexander Fleming - 8-nov-2018 Ashkenazi panel BRCA1, BRCA2 - Lina Nuñez-Hospital Alemán
0000000985 DNA SEQ-NG Alexander Fleming - 15-mar-2019 Specific pathology BRCA1, BRCA2 13 Lina Nuñez-Hospital Alemán
0000000986 DNA MLPA Alexander Fleming CHEK2 1100delC also evaluated 15-mar-2019 Specific pathology BRCA1, BRCA2 - Lina Nuñez-Hospital Alemán



Variants

13 entries on 1 page. Showing entries 1 - 13.
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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 - - Lina Nuñez-Hospital Alemán BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Homo no r.(?) -
13 Unknown -/- g.32336319C>G - BRCA2_000168 - - Lina Nuñez-Hospital Alemán BRCA2 11 NM_000059.3:c.1964C>G p.(Pro655Arg) Hetero no r.(?) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Lina Nuñez-Hospital Alemán BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Lina Nuñez-Hospital Alemán BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071031A>G - BRCA1_000131 - - Lina Nuñez-Hospital Alemán BRCA1 16 NM_007294.3:c.4883T>C p.(Met1628Thr) Hetero no r.(?) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Lina Nuñez-Hospital Alemán BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Lina Nuñez-Hospital Alemán BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Unknown -/- g.43124230A>G - BRCA1_000001 - - Lina Nuñez-Hospital Alemán BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Hetero no r.(=) -
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