Individual #00002595

Ethnic origin spanish/spanish - Spanish/spanish
Reference -
Remarks -
Cuadro familiar Hereditary Breast and Ovarian cancer syndrome, BRCA1 and/or BRCA2 genes
Panel size 1
Diseases N/A
Owner name Norma Rossi - Sanatorio Allende
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Date created 2024-01-12 17:01:10 -02:00 (-02)
Date last edited N/A


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     
0000002894 DNA SEQ-NG;CNV Fundación para el Progreso de la Medicina Breast and ovarian cancer panel (28 genes) APC, ATM, BAP1, BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1,CDK4,CDKN2A, CHEK2, EPCAM, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1,POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53. 20-03-23 Multigenetic panel - 3 Norma Rossi - Sanatorio Allende



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
11 Unknown ?/? g.108293410T>C - ATM_000115 - - Norma Rossi - Sanatorio Allende ATM 31 NM_000051.3:c.4709T>C p.(Val1570Ala) Hetero no r.(4709u>c) -
17 Unknown ?/? g.43092098C>A - BRCA1_000201 - - Norma Rossi - Sanatorio Allende BRCA1 10 NM_007294.3:c.3433G>T p.(Val1145Phe) Hetero no r.(3433g>u) -
17 Unknown +/+? g.43115739G>A - BRCA1_000200 - - Norma Rossi - Sanatorio Allende BRCA1 3 NM_007294.3:c.121C>T p.(His41Tyr) Hetero no r.(121c>u) -
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