Individual #00002305

Ethnic origin unknown
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer
Owner name Emilia Maldonado-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     

Genes screened     

Variants found     

Owner     
0000002686 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 19-01-23 Multigenetic panel - 3 Emilia Maldonado-Hospital de Córdoba



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     

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DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
2 Unknown ?/? g.47379851C>G - EPCAM_000017 - - Emilia Maldonado-Hospital de Córdoba EPCAM 7 NM_002354.2:c.740C>G p.(Thr247Ser) Hetero BARD1 r.(740c>g) -
2 Unknown +/+ g.214781426G>A - BARD1_000033 rs730881411 - Emilia Maldonado-Hospital de Córdoba BARD1 4 NM_000465.3:c.448C>T p.(Arg150*) Hetero N/A r.(448c>u) -
17 Unknown ?/? g.61685940A>G - BRIP1_000024 rs778916092 - Emilia Maldonado-Hospital de Córdoba BRIP1 19 NM_032043.2:c.2801T>C p.(Phe934Ser) Hetero BARD1 r.(2801u>c) -
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