Individual #00000427

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar Breast cancer, Ovarian cancer
Panel size 1
Diseases Ovarian cancer
Owner name Jesica Ramirez-Hospital Central de Mendoza
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     
0000000481 DNA MLPA;SEQ-NG CEMIC - 26-feb-2017 - BRCA1, BRCA2 17 Jesica Ramirez-Hospital Central de Mendoza



Variants

17 entries on 1 page. Showing entries 1 - 17.
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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.32329548C>T - BRCA2_000006 - - Jesica Ramirez-Hospital Central de Mendoza BRCA2 8i NM_000059.3:c.681+56C>T p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32336191T>C - BRCA2_000003 - - Jesica Ramirez-Hospital Central de Mendoza BRCA2 10i NM_000059.3:c.1910-74T>C p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32338162T>C - BRCA2_000001 - - Jesica Ramirez-Hospital Central de Mendoza BRCA2 11 NM_000059.3:c.3807T>C p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32362509T>C - BRCA2_000004 - - Jesica Ramirez-Hospital Central de Mendoza BRCA2 16i NM_000059.3:c.7806-14T>C p.(=) Hetero BRCA1 r.(=) -
13 Unknown -/- g.32379251T>C - BRCA2_000005 - - Jesica Ramirez-Hospital Central de Mendoza BRCA2 21i NM_000059.3:c.8755-66T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43064004G>A - BRCA1_000017 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 17i NM_007294.3:c.5075-53C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43093454C>T - BRCA1_000016 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.2077G>A p.(Asp693Asn) Hetero BRCA1 r.(?) -
17 Unknown +/+ g.43093801_43093802del - BRCA1_000084 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 11 NM_007294.3:c.1729_1730del p.(Glu577Ilefs*8) Hetero N/A r.(?) -
17 Unknown -/- g.43099914G>A - BRCA1_000012 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 7i NM_007294.3:c.442-34C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43124230A>G - BRCA1_000001 - - Jesica Ramirez-Hospital Central de Mendoza BRCA1 1i NM_007294.3:c.-19-115T>C p.(=) Hetero BRCA1 r.(=) -
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