Individual #00000184

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Alejandra Mampel-Hospital Universitario 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


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Owner     
0000000209 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (12 genes) 23-may-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 21 Alejandra Mampel-Hospital Universitario de Mendoza



Variants

21 entries on 1 page. Showing entries 1 - 21.
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Chr     

Allele     

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AscendingDNA change (genomic) (hg38)     

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10 Unknown -?/-? g.87960891delT - PTEN_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza PTEN 7i NM_000314.6:c.802-3del . Hetero BRCA1 . -
11 Unknown -/-? g.108243949delT - ATM_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza ATM 5i NM_000051.3:c.497-4delT p.? Hetero BRCA1 r.spl? -
11 Unknown -/- g.108250698dupT - ATM_000003 - - Alejandra Mampel-Hospital Universitario de Mendoza ATM 9i NM_000051.3:c.1236-3dupT p.? Hetero BRCA1 r.spl? -
11 Unknown -/-? g.108271243delT - ATM_000002 - - Alejandra Mampel-Hospital Universitario de Mendoza ATM 19i NM_000051.3:c.2922-8delT p.(=) Hetero BRCA1 r.(=) -
11 Unknown -/- g.108312440G>A - ATM_000004 - - Alejandra Mampel-Hospital Universitario de Mendoza ATM 40 NM_000051.3:c.5948G>A p.(Ser1983Asn) Homo BRCA1 r.(?) -
13 Unknown -/- g.32332592A>C - BRCA2_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 10 NM_000059.3:c.1114A>C p.(Asn372His) Homo BRCA1 r.(?) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo BRCA1 r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo BRCA1 r.(=) -
16 Unknown -/- g.68737469C>T - CDH1_000002 - - Alejandra Mampel-Hospital Universitario de Mendoza CDH1 1i NM_004360.3:c.48+6C>T p.(=) Hetero BRCA1 r.(=) -
16 Unknown -/- g.68823538T>C - CDH1_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza CDH1 13 NM_004360.3:c.2076T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43071077T>C - BRCA1_000009 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 16 NM_007294.3:c.4837A>G p.(Ser1613Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43082453A>G - BRCA1_000008 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 13 NM_007294.3:c.4308T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43091983T>C - BRCA1_000007 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.3548A>G p.(Lys1183Arg) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092418T>C - BRCA1_000006 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.3113A>G p.(Glu1038Gly) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43092919G>A - BRCA1_000004 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2612C>T p.(Pro871Leu) Hetero BRCA1 r.(?) -
17 Unknown -/- g.43093220A>G - BRCA1_000003 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2311T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/- g.43093449G>A - BRCA1_000002 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.2082C>T p.(=) Hetero BRCA1 r.(=) -
17 Unknown +/+ g.43093857delT - BRCA1_000053 - - Alejandra Mampel-Hospital Universitario de Mendoza BRCA1 11 NM_007294.3:c.1674delA p.(Gly559Valfs*13) Hetero N/A r.(?) -
17 Unknown -/-? g.61683635A>G - BRIP1_000003 - - Alejandra Mampel-Hospital Universitario de Mendoza BRIP1 20 NM_032043.2:c.3411T>C p.(=) Hetero BRCA1 r.(=) -
17 Unknown -/-? g.61685986A>G - BRIP1_000002 - - Alejandra Mampel-Hospital Universitario de Mendoza BRIP1 19 NM_032043.2:c.2755T>C p.(Ser919Pro) Hetero BRCA1 r.(?) -
17 Unknown -/-? g.61686104T>C - BRIP1_000001 - - Alejandra Mampel-Hospital Universitario de Mendoza BRIP1 19 NM_032043.2:c.2637A>G p.(=) Homo BRCA1 r.(=) -
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