Individual #00000075

Ethnic origin Spanish-Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Luisina Bruno-Instituto Fleming
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     
0000000082 DNA SEQ-NG Alexander Fleming - 5-dec-2016 - BRCA1, BRCA2 20 Luisina Bruno-Instituto Fleming
0000000083 DNA MLPA Alexander Fleming - 20-feb-2017 - BRCA1, BRCA2 - Luisina Bruno-Instituto Fleming



Variants

20 entries on 1 page. Showing entries 1 - 20.
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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 Parent #1 -/- g.32325251A>C - BRCA2_000014 - - Luisina Bruno-Instituto Fleming BRCA2 4i NM_000059.3:c.425+67A>C p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32332343A>C - BRCA2_000015 - - Luisina Bruno-Instituto Fleming BRCA2 10 NM_000059.3:c.865A>C p.(Asn289His) Hetero no r.(?) -
13 Parent #1 -/- g.32332843A>G - BRCA2_000016 - - Luisina Bruno-Instituto Fleming BRCA2 10 NM_000059.3:c.1365A>G p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32336214G>T - BRCA2_000017 - - Luisina Bruno-Instituto Fleming BRCA2 10i NM_000059.3:c.1910-51G>T p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32336584T>C - BRCA2_000018 - - Luisina Bruno-Instituto Fleming BRCA2 11 NM_000059.3:c.2229T>C p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32337326A>G - BRCA2_000019 - - Luisina Bruno-Instituto Fleming BRCA2 11 NM_000059.3:c.2971A>G p.(Asn991Asp) Hetero no r.(?) -
13 Parent #1 -/- g.32338162T>C - BRCA2_000001 - - Luisina Bruno-Instituto Fleming BRCA2 11 NM_000059.3:c.3807T>C p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32355095A>G - BRCA2_000026 - - Luisina Bruno-Instituto Fleming BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32362509T>C - BRCA2_000004 - - Luisina Bruno-Instituto Fleming BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Parent #1 -/- g.32379251T>C - BRCA2_000005 - - Luisina Bruno-Instituto Fleming BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
17 Parent #1 -/- g.43070958C>T - BRCA1_000020 - - Luisina Bruno-Instituto Fleming BRCA1 16 NM_007294.3:c.4956G>A p.(Met1652Ile) Hetero no r.(?) -
17 Parent #1 -/- g.43071077T>C - BRCA1_000009 - - Luisina Bruno-Instituto Fleming BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Parent #1 -/- g.43082453A>G - BRCA1_000008 - - Luisina Bruno-Instituto Fleming BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero no r.(=) -
17 Parent #1 -/- g.43091983T>C - BRCA1_000007 - - Luisina Bruno-Instituto Fleming BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero no r.(?) -
17 Parent #1 -/- g.43092418T>C - BRCA1_000006 - - Luisina Bruno-Instituto Fleming BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero no r.(?) -
17 Parent #1 -/- g.43092919G>A - BRCA1_000004 - - Luisina Bruno-Instituto Fleming BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero no r.(?) -
17 Parent #1 -/- g.43093220A>G - BRCA1_000003 - - Luisina Bruno-Instituto Fleming BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Parent #1 -/- g.43093449G>A - BRCA1_000002 - - Luisina Bruno-Instituto Fleming BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero no r.(=) -
17 Parent #1 -/- g.43099914G>A - BRCA1_000012 - - Luisina Bruno-Instituto Fleming BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
17 Parent #1 -/- g.43124230A>G - BRCA1_000001 - - Luisina Bruno-Instituto Fleming BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Hetero no r.(=) -
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