Individual #00000381

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     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000434 DNA SEQ-NG;z-score-CNV Héritas Panel Héritas (24 genes) BRCA1-BRCA2-PTEN-TP53-ATM-CDH1-CHEK2-NBN-NF1-PALB2-STK11-BRIP1-RAD51C-RAD51D-MLH1-MSH2-MSH6-PMS2-APC-MUTYH-BMPR1A-SMAD4-CDKN2A-CDK4 12-dic-2017 Multigenetic panel - 4 Gonzalo Tabares-CEMA



Variants

4 entries on 1 page. Showing entries 1 - 4.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

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DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
5 Unknown -?/- g.112839920T>A - APC_000023 - - Gonzalo Tabares-CEMA APC 15 NM_000038.5:c.4326T>A p.(=) Hetero no r.(=) RECLASSIFIED JUNE 2019
11 Unknown -/-? g.108244860C>T - ATM_000012 - - Gonzalo Tabares-CEMA ATM 7 NM_000051.3:c.735C>T p.(=) Hetero no r.(=) -
11 Unknown ?/? g.108251060G>A - ATM_000014 - - Gonzalo Tabares-CEMA ATM 10 NM_000051.3:c.1595G>A p.(Cys532Tyr) Hetero no r.(?) -
13 Unknown ?/? g.32330946G>A - BRCA2_000100 - - Gonzalo Tabares-CEMA BRCA2 9 NM_000059.3:c.709G>A p.(Asp237Asn) Hetero no r.(?) -
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