Individual #00002162

Ethnic origin Uknown/Italian - Spanish/spanish
Reference -
Remarks -
Cuadro familiar Breast cancer
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


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     
0000002450 DNA SEQ-NG Fundación para el Progreso de la Medicina Panel Cancer de mama-ovario (29 genes) 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. 1-nov-2022 Multigenetic panel - 2 Norma Rossi - Sanatorio Allende



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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Co_ocurrence     

RNA change     

Review status     
3 Unknown ?/? g.20454C>G - MLH1_000078 - - Norma Rossi - Sanatorio Allende MLH1 IVS5 NM_000249.3:c.454-11C>G p.? Hetero no r.spl? -
17 Unknown +/+ g.31338738dup - NF1_000019 rs876657715 - Norma Rossi - Sanatorio Allende NF1 45 NM_000267.3:c.6791dup p.(Tyr2264*) Hetero N/A r.(6791dup) -
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