Individual #00001081

Ethnic origin Not available
Reference -
Remarks (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     
0000001292 DNA MLPA Hospital de Gastroenterologia " Dr. Carlos Bonorino Udaondo" - 17-may-2018 Specific pathology EPCAM, MLH1, MSH2 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 +/+ deletion of exon 1 - MSH2_000041 - - Marina Antelo-Hospital Udaondo MSH2 1 NM_000251.2:deletion of exon 1 . Hetero EPCAM . -
2 Unknown +/+ deletion of exon 9 - EPCAM_000008 - - Marina Antelo-Hospital Udaondo EPCAM 9 NM_002354.2:deletion of exon 9 . Hetero MSH2 . -
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