Individual #00000449

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Laura Vargas Roig-IMBECU
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     
0000000506 DNA SEQ-NG Héritas Panel Héritas (12 genes) 19-jul-2017 - ATM, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, PALB2, PTEN, RAD51C, RAD51D, STK11, TP53 13 Laura Vargas Roig-IMBECU



Variants

13 entries on 1 page. Showing entries 1 - 13.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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Review status     
11 Unknown -/- g.108250698dupT - ATM_000003 - - Laura Vargas Roig-IMBECU ATM 9i NM_000051.3:c.1236-3dupT p.? Hetero no r.spl? -
11 Unknown -?/-? g.108267276T>C - ATM_000019 - - Laura Vargas Roig-IMBECU ATM 17 NM_000051.3:c.2572T>C p.(Phe858Leu) Hetero no r.(?) RECLASSIFIED JUNE 2019
11 Unknown ./-? g.108271243delT - ATM_000002 - - Laura Vargas Roig-IMBECU ATM 19i NM_000051.3:c.2922-8delT p.(=) Hetero no r.(=) -
11 Unknown -/- g.108272729C>G - ATM_000016 - - Laura Vargas Roig-IMBECU ATM 24 NM_000051.3:c.3161C>G p.(Pro1054Arg) Hetero no r.(?) -
11 Unknown -/- g.108312440G>A - ATM_000004 - - Laura Vargas Roig-IMBECU ATM 40 NM_000051.3:c.5948G>A p.(Ser1983Asn) Homo no r.(?) -
13 Unknown -/- g.32337751A>G - BRCA2_000021 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.3396A>G p.(=) Hetero no r.(=) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Laura Vargas Roig-IMBECU BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
16 Unknown -/- g.68737469C>T - CDH1_000002 - - Laura Vargas Roig-IMBECU CDH1 1i NM_004360.3:c.48+6C>T p.(=) Homo no r.(=) -
17 Unknown -/- g.43092412C>T - BRCA1_000019 - - Laura Vargas Roig-IMBECU BRCA1 11 NM_007294.3:c.3119G>A p.(Ser1040Asn) Hetero no r.(?) -
17 Unknown -/-? g.61683635A>G - BRIP1_000003 - - Laura Vargas Roig-IMBECU BRIP1 20 NM_032043.2:c.3411T>C p.(=) Hetero no r.(=) -
17 Unknown -/-? g.61685986A>G - BRIP1_000002 - - Laura Vargas Roig-IMBECU BRIP1 19 NM_032043.2:c.2755T>C p.(Ser919Pro) Hetero no r.(?) -
17 Unknown -/-? g.61686104T>C - BRIP1_000001 - - Laura Vargas Roig-IMBECU BRIP1 19 NM_032043.2:c.2637A>G p.(=) Homo no r.(=) -
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