Individual #00000434

Ethnic origin Spanish-Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Vanesa Lotersztein-Genesia/Progenitest
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     
0000000489 DNA CNV Genesia - Progenitest;COLOR Hereditary Cancer Risk Test (30 genes) 1-oct-2017 Multigenetic panel - 2 Vanesa Lotersztein-Genesia/Progenitest



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     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
10 Unknown ?/? g.86912245_86912247del - BMPR1A_000001 - - Vanesa Lotersztein-Genesia/Progenitest BMPR1A 8 NM_004329.2:c.536_538del p.(Tyr179del) Hetero no r.(?) RECLASSIFIED MARCH 2018
22 Unknown ?/? g.28724989T>G - CHEK2_000011 - - Vanesa Lotersztein-Genesia/Progenitest CHEK2 4 NM_007194.3:c.580A>C p.(Ser194Arg) Hetero no r.(?) RECLASSIFIED MARCH 2018
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