Individual #00000418

Ethnic origin Italian
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     
0000000472 DNA SEQ-NG Myriad - 28-jun-2017 Specific pathology BRCA1, BRCA2 1 Gonzalo Tabares-CEMA
0000001177 DNA PCRq Myriad - 28-jul-2017 Specific pathology BRCA1, BRCA2 - Gonzalo Tabares-CEMA



Variants

1 entry on 1 page. Showing entry 1.
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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.32379440C>T - BRCA2_000110 - - Gonzalo Tabares-CEMA BRCA2 22 NM_000059.3:c.8878C>T p.(Gln2960*) Unknown N/A r.(?) BIC 9106C>T
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