Individual #00000798

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     

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Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000926 DNA SEQ-NG Héritas Panel Héritas (BRCA1,BRCA2,PTEN,TP53,ATM,CDH1,CHEK2,NBN,NF1,STK11,BRIP1,RAD51C,RAD51D,MLH1,MSH2,MSH6,PMS2,EPCAM,APC,MUTYH,BMPR1A,SMAD4,CDKN2A,CDK4) 29-jun-2018 Multigenetic panel - 7 Laura Vargas Roig-IMBECU



Variants

7 entries on 1 page. Showing entries 1 - 7.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

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DNA change (cDNA)     

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Zygosity     

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RNA change     

Review status     
3 Unknown -?/-? g.37025629_37025630insTA - MLH1_000039 - - Laura Vargas Roig-IMBECU MLH1 11i NM_000249.3:c.1039-8_1039-7insTA p.(=) Hetero no r.(=) -
7 Unknown ?/? g.5987522C>T - PMS2_000027 - - Laura Vargas Roig-IMBECU PMS2 11 NM_000535.5:c.1243G>A p.(Val415Met) Hetero no r.(?) -
16 Unknown -?/-? g.23607914A>C - PALB2_000005 - - Laura Vargas Roig-IMBECU PALB2 12 NM_024675.3:c.3300T>G p.(=) Hetero no r.(=) -
16 Unknown -?/-? g.23622972C>T - PALB2_000008 - - Laura Vargas Roig-IMBECU PALB2 9 NM_024675.3:c.2993G>A p.(Gly998Glu) Hetero no r.(?) -
16 Unknown -?/-? g.23630140C>G - PALB2_000006 - - Laura Vargas Roig-IMBECU PALB2 5 NM_024675.3:c.2014G>C p.(Glu672Gln) Hetero no r.(?) -
16 Unknown -/-? g.68808577G>C - CDH1_000003 - - Laura Vargas Roig-IMBECU CDH1 4i NM_004360.3:c.531+10G>C p.(=) Hetero no r.(=) -
17 Unknown -?/-? g.31156090C>T - NF1_000003 - - Laura Vargas Roig-IMBECU NF1 2 NM_000267.3:c.168C>T p.(=) Hetero no r.(=) -
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