Individual #00001808

Ethnic origin Irish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Angeles Nico-Instituto Roffo
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     
0000002093 DNA SEQ-NG Myriad MyRisk (33 genes) APC, ATM, AXIN2, BARD1,BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p16 and p14ARF), CHEK2, GALNT12, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NTHL1, PALB2, PMS2, PTEN, RAD51C, RAD51D, RNF43, RPS20, SMAD4,STK11, TP53. HOXB13, POLD1 and POLE 24-dec-2018 Multigenetic panel - 1 Angeles Nico-Instituto Roffo



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     

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DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
17 Unknown +/+ g.43094317_43094356del - BRCA1_000189 - - Angeles Nico-Instituto Roffo BRCA1 11 NM_007294.3:c.1175_1214del p.(Leu392Glnfs*5) Hetero N/A r.(?) -
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