Individual #00000409

Ethnic origin Caucasian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Gonzalo Tabares-CEMA
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     

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Owner     
0000000462 DNA SEQ-NG;z-score-CNV Héritas - 25-jul-2017 Multigenetic panel ATM, BRCA1, BRCA2, CDH1, CHEK2, MSH6, PALB2, PTEN, RAD51D, TP53 16 Gonzalo Tabares-CEMA



Variants

16 entries on 1 page. Showing entries 1 - 16.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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Review status     
2 Unknown -/- g.47783419C>A - MSH6_000006 - - Gonzalo Tabares-CEMA MSH6 1 NM_000179.2:c.186C>A p.(=) Hetero no r.(=) -
2 Unknown -/- g.47790942A>G - MSH6_000008 - - Gonzalo Tabares-CEMA MSH6 2 NM_000179.2:c.276A>G p.(=) Hetero no r.(=) -
2 Unknown -/- g.47795976T>C - MSH6_000010 - - Gonzalo Tabares-CEMA MSH6 3 NM_000179.2:c.540T>C p.(=) Hetero no r.(=) -
2 Unknown -?/-? g.47806769delT - MSH6_000028 - - Gonzalo Tabares-CEMA MSH6 9i NM_000179.2:c.4002-10delT p.(=) Hetero no r.(=) -
10 Unknown -?/-? g.87960891delT - PTEN_000001 - - Gonzalo Tabares-CEMA PTEN 7i NM_000314.6:c.802-3del . Hetero no . -
11 Unknown -/- g.108250698dupT - ATM_000003 - - Gonzalo Tabares-CEMA ATM 9i NM_000051.3:c.1236-3dupT p.? Hetero no r.spl? -
11 Unknown -/? g.108267276T>C - ATM_000019 - - Gonzalo Tabares-CEMA ATM 17 NM_000051.3:c.2572T>C p.(Phe858Leu) Hetero no r.(?) -
11 Unknown -/-? g.108271243delT - ATM_000002 - - Gonzalo Tabares-CEMA ATM 19i NM_000051.3:c.2922-8delT p.(=) Hetero no r.(=) -
11 Unknown -/- g.108272729C>G - ATM_000016 - - Gonzalo Tabares-CEMA ATM 24 NM_000051.3:c.3161C>G p.(Pro1054Arg) Hetero no r.(?) -
11 Unknown -/- g.108312440G>A - ATM_000004 - - Gonzalo Tabares-CEMA ATM 40 NM_000051.3:c.5948G>A p.(Ser1983Asn) Homo no r.(?) -
13 Unknown -/- g.32338918A>G - BRCA2_000010 - - Gonzalo Tabares-CEMA BRCA2 11 NM_000059.3:c.4563A>G p.(=) Homo no r.(=) -
13 Unknown -/- g.32340868G>C - BRCA2_000036 - - Gonzalo Tabares-CEMA BRCA2 11 NM_000059.3:c.6513G>C p.(=) Homo no r.(=) -
16 Unknown -/- g.68737469C>T - CDH1_000002 - - Gonzalo Tabares-CEMA CDH1 1i NM_004360.3:c.48+6C>T p.(=) Homo no r.(=) -
16 Unknown -/- g.68819394G>C - CDH1_000008 - - Gonzalo Tabares-CEMA CDH1 11 NM_004360.3:c.1680G>C p.(=) Hetero no r.(=) RECLASSIFIED JULY 2022
16 Unknown -/- g.68823538T>C - CDH1_000001 - - Gonzalo Tabares-CEMA CDH1 13 NM_004360.3:c.2076T>C p.(=) Homo no r.(=) -
17 Unknown -/-? g.35106468C>T - RAD51D_000001 - - Gonzalo Tabares-CEMA RAD51D 6 NM_002878.3:c.494G>A p.(Arg165Gln) Hetero no r.(?) -
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