Individual #00001138

Ethnic origin Not available
Reference -
Remarks -
Cuadro familiar Breast cancer, Endometrial 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     

Genes screened     

Variants found     

Owner     
0000001364 DNA CNV;SEQ-NG Hospital Privado Centro Médico de Córdoba Panel (ATM, BARD1, BRCA1, BRCA2, BRIP1, CDC73, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, STK11, SDHB, SDHD, TP53) 14-may-2019 Multigenetic panel - 3 Claudia Martin-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     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
1 Unknown ?/? g.17053955C>G - SDHB_000002 - - Claudia Martin-Hospital de Córdoba SDHB 1 NM_003000.2:c.65G>C p.(Cys22Ser) Hetero no r.(?) -
2 Unknown ?/? g.214728742C>G - BARD1_000011 - - Claudia Martin-Hospital de Córdoba BARD1 11 NM_000465.3:c.2268G>C p.(Trp756Cys) Hetero no r.(?) -
17 Unknown ?/? g.31337408C>G - NF1_000004 - - Claudia Martin-Hospital de Córdoba NF1 42 NM_000267.3:c.6405C>G p.(Phe2135Leu) Hetero no r.(?) -
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