Individual #00000678

Ethnic origin Italian-Portuguese-Spanish
Reference -
Remarks -
Cuadro familiar Ovarian cancer, Prostate cancer
Panel size 1
Diseases N/A
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     
0000000787 DNA SEQ-NG Hidalgo - 27-sep-2018 Specific pathology panel BRCA1, BRCA2 11 Lina Nuñez-Hospital Alemán
0000000788 DNA MLPA Hidalgo CHEK2 1110delC also evaluated 27-sep-2018 Specific pathology panel BRCA1, BRCA2 - Lina Nuñez-Hospital Alemán



Variants

11 entries on 1 page. Showing entries 1 - 11.
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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.32316435G>A - BRCA2_000020 - - Lina Nuñez-Hospital Alemán BRCA2 5'UTR NM_000059.3:c.-26G>A p.(=) Hetero no r.(=) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Lina Nuñez-Hospital Alemán BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Hetero no r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Lina Nuñez-Hospital Alemán BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32355095A>G - BRCA2_000026 - - Lina Nuñez-Hospital Alemán BRCA2 14 NM_000059.3:c.7242A>G p.(=) 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.43094464T>C - BRCA1_000021 - - Lina Nuñez-Hospital Alemán BRCA1 11 NM_007294.3:c.1067A>G p.(Gln356Arg) Hetero no r.(?) -
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