Individual #00000900

Ethnic origin Spanish
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases -
Owner name Laura Vargas Roig-IMBECU
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     
0000001075 DNA SEQ-NG Héritas Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,PMS2,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM 8-aug-2018 Multigenetic panel - 3 Laura Vargas Roig-IMBECU
0000001076 DNA DECoN Héritas Panel Héritas (25 genes) APC,ATM,BMPR1A,BRCA1,BRCA2,BRIP1,CDH1,CDK4,CDKN2A,CHEK2,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PTEN,RAD51C,RAD51D,SMAD4,STK11,TP53,EPCAM 8-aug-2018 Multigenetic panel - - Laura Vargas Roig-IMBECU
0000001077 DNA z-score-CNV Héritas - 8-aug-2018 Specific pathology PMS2 - Laura Vargas Roig-IMBECU



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     
11 Unknown -?/-? g.108292760C>T - ATM_000018 - - Laura Vargas Roig-IMBECU ATM 30 NM_000051.3:c.4578C>T p.(=) Hetero no r.(=) -
11 Unknown ?/? g.108329154C>T - ATM_000043 - - Laura Vargas Roig-IMBECU ATM 49 NM_000051.3:c.7223C>T p.(Ser2408Leu) Hetero no r.(?) -
17 Unknown -/- g.43097246G>A - BRCA1_000054 - - Laura Vargas Roig-IMBECU BRCA1 9 NM_007294.3:c.591C>T p.(=) Hetero no r.(=) -
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