Individual #00002301

Ethnic origin spanish
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer
Owner name Claudia Martin-Hospital de Córdoba
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     

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Variants found     

Owner     
0000002669 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1,CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53 12-11-21 Multigenetic panel - 2 Claudia Martin-Hospital de Córdoba



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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RNA change     

Review status     
1 Unknown ?/- g.45334484C>T - MUTYH_000008 - - Claudia Martin-Hospital de Córdoba MUTYH 2 NM_001048171.1:c.64G>A p.(Val22Met) Hetero no r.(64g>a) -
11 Unknown ?/-? g.108247060C>T - ATM_000128 rs28904919 - Claudia Martin-Hospital de Córdoba ATM 8 NM_000051.4:c.998C>T p.(Ser333Phe) Hetero no r.(998c>u) -
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