Individual #00000572

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Laura Igarzabal-CEMIC
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     
0000000648 DNA SEQ-NG CEMIC - 2-oct-2017 - BRCA1, BRCA2 13 Laura Igarzabal-CEMIC
0000000649 DNA MLPA CEMIC CHEK2 1100delC also evaluated 24-nov-2017 - BRCA1, BRCA2 - Laura Igarzabal-CEMIC



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.32325251A>C - BRCA2_000014 - - Laura Igarzabal-CEMIC BRCA2 4i NM_000059.3:c.425+67A>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32332343A>C - BRCA2_000015 - - Laura Igarzabal-CEMIC BRCA2 10 NM_000059.3:c.865A>C p.(Asn289His) Hetero no r.(?) -
13 Unknown -/- g.32332843A>G - BRCA2_000016 - - Laura Igarzabal-CEMIC BRCA2 10 NM_000059.3:c.1365A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32336214G>T - BRCA2_000017 - - Laura Igarzabal-CEMIC BRCA2 10i NM_000059.3:c.1910-51G>T p.(=) Hetero no r.(=) -
13 Unknown -/- g.32336584T>C - BRCA2_000018 - - Laura Igarzabal-CEMIC BRCA2 11 NM_000059.3:c.2229T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32337326A>G - BRCA2_000019 - - Laura Igarzabal-CEMIC BRCA2 11 NM_000059.3:c.2971A>G p.(Asn991Asp) Hetero no r.(?) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Laura Igarzabal-CEMIC BRCA2 14 NM_000059.3:c.7242A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Laura Igarzabal-CEMIC BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Laura Igarzabal-CEMIC BRCA2 21 NM_000059.3:c.8755-66T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43063909C>G - BRCA1_000101 - - Laura Igarzabal-CEMIC BRCA1 18 NM_007294.3:c.5117G>C p.(Gly1706Ala) Hetero no r.(?) -
17 Unknown -/- g.43092412C>T - BRCA1_000019 - - Laura Igarzabal-CEMIC BRCA1 11 NM_007294.3:c.3119G>A p.(Ser1040Asn) Hetero no r.(?) -
17 Unknown -/- g.43093010G>A - BRCA1_000046 - - Laura Igarzabal-CEMIC BRCA1 11 NM_007294.3:c.2521C>T p.(Arg841Trp) Hetero no r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Laura Igarzabal-CEMIC BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero no r.(=) -
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