Individual #00001038

Ethnic origin Not available
Reference -
Remarks CIA (antec ambos/explica cuadro)
Cuadro familiar -
Panel size 1
Diseases -
Owner name Marina Antelo-Hospital Udaondo
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     
0000001243 DNA SEQ-NG;CNV Genesia - Progenitest;INVITAE Invitae Multi-Cancer Panel (83 genes) 24-may-2019 Multigenetic panel - 2 Marina Antelo-Hospital Udaondo



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     
2 Unknown ?/? g.29225518C>T - ALK_000001 - - Marina Antelo-Hospital Udaondo ALK 19 NM_004304.4:c.3115G>A p.(Val1039Met) Hetero MSH6 r.(?) -
2 Unknown +/+ g.47803508del https://www.ncbi.nlm.nih.gov/clinvar/variation/89363/ MSH6_000040 - - Marina Antelo-Hospital Udaondo MSH6 5 NM_000179.2:c.3261del p.(Phe1088Serfs*2) Hetero N/A r.(?) -
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