Individual #00003152

Ethnic origin Italian / Spanish
Reference -
Remarks -
Cuadro familiar Colorectal cancer
Panel size 1
Diseases Colorectal cancer
Owner name Guillermo Alberto-Instituto Fleming
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     
0000003470 DNA SEQ-NG;CNV CIBIC – Centro de Diagnóstico Médico de Alta Complejidad S.A. - HERITAS HEREDITARY CANCER SYNDROME PANEL (41 genes) APC, ATM, BARD1, BLM, BMPR1A, BRCA1, BRCA2, BRIP1, CDH1, CDKN2A, CHEK2, DICER1, EPCAM, FANCC, FANCM, GALNT12, GREM1, HOXB13, MLH1, MRE11A, MSH2, MSH3, MSH6, MUTYH, NBN, NF1, NTHL1, PALB2, PMS2, POLD1, POLE, PTEN, RAD50, RAD51C, RAD51D, RINT1, SMAD4, SMARCA4, STK11, TP53, XRCC2 19-jun-2024 Multigenetic panel - 2 Guillermo Alberto-Instituto Fleming



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     

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Review status     
3 Unknown ?/? g.37008896T>A - MLH1_000091 - - Guillermo Alberto-Instituto Fleming MLH1 6 NM_000249.3:c.536T>A p.(Val179Asp) Hetero no r.(?) -
14 Unknown ?/? g.45175509G>A - FANCM_000024 rs184770388 - Guillermo Alberto-Instituto Fleming FANCM 14 NM_020937.4:c.2755G>A p.(Glu919Lys) Hetero no r.(?) -
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