Individual #00001662

Ethnic origin Italian; Spanish
Reference -
Remarks -
Cuadro familiar Ovarian cancer
Panel size 1
Diseases Breast cancer
Owner name Silvina Sisterna-Hospital de Comunidad
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     
0000001937 DNA SEQ-NG Color Hereditary Cancer Test (30 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A (p14ARF), CDKN2A (p16INK4a), CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 09-dec-2020 Multigenetic panel - 2 Silvina Sisterna-Hospital de Comunidad



Variants

2 entries on 1 page. Showing entries 1 - 2.
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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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Zygosity     

Co_ocurrence     

RNA change     

Review status     
10 Unknown ?/? g.86876005A>G - BMPR1A_000006 - - Silvina Sisterna-Hospital de Comunidad BMPR1A 5UTR NM_004329.2:c.-14A>G p.(?) Hetero ATM r.(=) -
11 Unknown +/+ g.108304822C>T - ATM_000085 - - Silvina Sisterna-Hospital de Comunidad ATM 37 NM_000051.3:c.5644C>T p.(Arg1882*) Hetero N/A r.(?) -
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