Individual #00002003

Ethnic origin Spanish/English
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Cecilia Montes-IMGO
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     

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Type of test     

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Variants found     

Owner     
0000002290 DNA SEQ-NG LACE Panel de (30 genes) APC, ATM, BAP1,BARD1, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDK4, CDKN2A, CHEK2, EPCAM, GREM1, MITF, MLH1, MSH2, MSH6, MUTYH, NBN, PALB2, PMS2, POLD1, POLE, PTEN, RAD51C, RAD51D, SMAD4, STK11, TP53 04-aug-2021 Multigenetic panel - 2 Cecilia Montes-IMGO



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     

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DNA change (cDNA)     

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Co_ocurrence     

RNA change     

Review status     
3 Unknown ?/? g.36993576G>T - MLH1_000074 - - Cecilia Montes-IMGO MLH1 1 NM_000249.3:c.29G>T p.(Arg10Leu) Hetero BRCA2 r.(29g>u) -
13 Unknown +/+ g.32339706dup - BRCA2_000162 - - Cecilia Montes-IMGO BRCA2 11 NM_000059.3:c.5351dup p.(Asn1784Lysfs*3) Hetero N/A r.(5351dup) -
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