Individual #00000901

Ethnic origin Uruguayan
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     
0000001078 DNA SEQ-NG 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 16-may-2018 Multigenetic panel - 9 Laura Vargas Roig-IMBECU
0000001079 DNA z-score-CNV Héritas - 16-may-2018 Multigenetic panel APC, BRCA1, BRCA2, EPCAM, MLH1, MSH2, MUTYH, NF1, PMS2 0 Laura Vargas Roig-IMBECU



Variants

9 entries on 1 page. Showing entries 1 - 9.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

Reference     

DB-ID     

Owner     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Reference     
5 Unknown -?/-? g.112839954A>G Reclassified November 2020 APC_000029 Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.4360A>G p.(Lys1454Glu) Hetero no r.(?) -
5 Unknown -?/- g.112840487T>C - APC_000030 Laura Vargas Roig-IMBECU APC 15 NM_000038.5:c.4893T>C p.(=) Hetero no r.(=) -
11 Unknown -?/-? g.108251865C>G - ATM_000044 Laura Vargas Roig-IMBECU ATM 11 NM_000051.3:c.1636C>G p.(Leu546Val) Hetero no r.(?) -
11 Unknown -?/-? g.108256283C>T - ATM_000045 Laura Vargas Roig-IMBECU ATM 14 NM_000051.3:c.2193C>T p.(=) Hetero no r.(=) -
11 Unknown -?/-? g.108267318C>T - ATM_000046 Laura Vargas Roig-IMBECU ATM 17 NM_000051.3:c.2614C>T p.(Pro872Ser) Hetero no r.(?) -
11 Unknown -?/- g.108268456A>G Reclassified November 2020 ATM_000047 Laura Vargas Roig-IMBECU ATM 18 NM_000051.3:c.2685A>G p.(=) Hetero no r.(=) -
11 Unknown -?/-? g.108327664T>C - ATM_000048 Laura Vargas Roig-IMBECU ATM 48 NM_000051.3:c.6995T>C p.(Leu2332Pro) Hetero no r.(?) -
17 Unknown -/- g.43071074G>A - BRCA1_000138 Laura Vargas Roig-IMBECU BRCA1 16 NM_007294.3:c.4840C>T p.(Pro1614Ser) Hetero no r.(?) -
22 Unknown -?/-? g.28734470T>C - CHEK2_000021 Laura Vargas Roig-IMBECU CHEK2 2 NM_007194.3:c.252A>G p.(=) Hetero no r.(=) -
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