Individual #00000877

Ethnic origin Caucasian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Laura Vargas Roig-IMBECU
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


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Owner     
0000001042 DNA SEQ-NG;z-score-CNV Héritas - 20-feb-2017 Specific pathology BRCA1, BRCA2 17 Laura Vargas Roig-IMBECU



Variants

17 entries on 1 page. Showing entries 1 - 17.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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Review status     
13 Unknown -/- g.32332343A>C - BRCA2_000015 - - Laura Vargas Roig-IMBECU BRCA2 10 NM_000059.3:c.865A>C p.(Asn289His) Hetero BRCA2 r.(?) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Laura Vargas Roig-IMBECU BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero BRCA2 r.(?) -
13 Unknown -/- g.32332843A>G - BRCA2_000016 - - Laura Vargas Roig-IMBECU BRCA2 10 NM_000059.3:c.1365A>G p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32336584T>C - BRCA2_000018 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.2229T>C p.(=) Hetero BRCA2 r.(=) -
13 Unknown -/- g.32337326A>G - BRCA2_000019 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.2971A>G p.(Asn991Asp) Hetero BRCA2 r.(?) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo BRCA2 r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo BRCA2 r.(=) -
13 Unknown -/- g.32356461T>C - BRCA2_000009 - - Laura Vargas Roig-IMBECU BRCA2 15 NM_000059.3:c.7469T>C p.(Ile2490Thr) Hetero BRCA2 r.(?) -
13 Unknown -/- g.32379413G>A - BRCA2_000058 - - Laura Vargas Roig-IMBECU BRCA2 22 NM_000059.3:c.8851G>A p.(Ala2951Thr) Hetero BRCA2 r.(?) -
13 Unknown +/+ g.32379516G>A - BRCA2_000161 - - Laura Vargas Roig-IMBECU BRCA2 22i NM_000059.3:c.8953+1G>A p.? Hetero N/A r.spl? -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Laura Vargas Roig-IMBECU BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero BRCA2 r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Laura Vargas Roig-IMBECU BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero BRCA2 r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero BRCA2 r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero BRCA2 r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero BRCA2 r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero BRCA2 r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero BRCA2 r.(=) -
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