Individual #00000098

Ethnic origin Irish-Ashkenazi
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Norma Rossi-Hospital de Córdoba
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     
0000000107 DNA SEQ-NG Clinica Universitaria Reina Fabiola - 22-feb-2017 - BRCA1, BRCA2 10 Norma Rossi-Hospital de Córdoba



Variants

10 entries on 1 page. Showing entries 1 - 10.
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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.32315655A>G - BRCA2_000048 - - Norma Rossi-Hospital de Córdoba BRCA2 5'UTR NM_000059.3:c.-52A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32316435G>A - BRCA2_000020 - - Norma Rossi-Hospital de Córdoba BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32336584T>C - BRCA2_000018 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.2229T>C p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Norma Rossi-Hospital de Córdoba BRCA2 11 NM_000059.3:c.4563A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355250T>C - BRCA2_000012 - - Norma Rossi-Hospital de Córdoba BRCA2 14 NM_000059.3:c.7397T>C p.(Val2466Ala) Homo no r.(?) -
13 Unknown -/- g.32379413G>A - BRCA2_000058 - - Norma Rossi-Hospital de Córdoba BRCA2 22 NM_000059.3:c.8851G>A p.(Ala2951Thr) Hetero no r.(?) -
13 Unknown -/- g.32398875A>C - BRCA2_000059 - - Norma Rossi-Hospital de Córdoba BRCA2 3'UTR NM_000059.3:c.*105A>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Norma Rossi-Hospital de Córdoba BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero no r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero no r.(=) -
17 Unknown -/- g.43094464T>C - BRCA1_000021 - - Norma Rossi-Hospital de Córdoba BRCA1 11 NM_007294.3:c.1067A>G p.(Gln356Arg) Homo no r.(?) -
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