Individual #00001539

Ethnic origin Ashkenazi-italiano/español
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Luisina Bruno-Instituto Fleming
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     
0000001812 DNA SEQ-NG Alexander Fleming Panel Invitae de Cáncer de mama y Ginecológico Panel invitae de Cáncer Colorrectal 1 gen puntual (33 genes APC, ATM, AXIN2, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, GREM1, MLH1, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, SMAD4, SMARCA4, STK11, TP53) 28-sep-2020 Multigenetic panel - 2 Luisina Bruno-Instituto Fleming



Variants

2 entries on 1 page. Showing entries 1 - 2.
Legend   How to query  

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     
16 Unknown +/+ g.23634893A>T - PALB2_000001 - - Luisina Bruno-Instituto Fleming PALB2 4 NM_024675.3:c.1653T>A p.(Tyr551*) Hetero N/A r.(?) -
17 Unknown ?/? g.31156091G>A - NF1_000006 - - Luisina Bruno-Instituto Fleming NF1 2 NM_000267.3:c.169G>A p.(Gly57Ser) Hetero PALB2 r.(?) -
Legend   How to query