Individual #00001917

Ethnic origin Spanish/Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
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     

Genes screened     

Variants found     

Owner     
0000002203 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba PANEL CÁNCER MAMA-OVARIO (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 16-Dec-2021 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     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
2 Unknown ?/? g.47373842G>A - EPCAM_000014 - - Norma Rossi - Sanatorio Allende EPCAM 3 NM_002354.2:c.219G>A p.(Met73Ile) Hetero PALB2 r.(219g>a) -
14 Unknown ?/-? g.45188821C>T - FANCM_000010 - - Norma Rossi - Sanatorio Allende FANCM 20 NM_020937.3:c.4799C>T p.(Thr1600Ile) Hetero PALB2 r.(4799c>u) -
16 Unknown +/+ g.23607958G>A - PALB2_000040 - - Norma Rossi - Sanatorio Allende PALB2 12 NM_024675.3:c.3256C>T p.(Arg1086*) Hetero N/A r.(3256c>u) -
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