Individual #00002596

Ethnic origin Argentinean-unknown / German-French
Reference -
Remarks -
Cuadro familiar Breast cancer
Panel size 1
Diseases Breast cancer
Owner name Norma Rossi - Sanatorio Allende
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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Type of test     

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Owner     
0000002895 DNA SEQ-NG;CNV Fundación para el Progreso de la Medicina Hereditary custom cancer panel (49 genes) APC,ATM,BAP1,BARD1,BLM,BMPR1A,BRCA1,BRCA2, BRIP1,BUB1B,CDC73,CDH1,CDKN1C,CEP57,CHEK2,DICER1,DIS3L2,EPCAM,FANCC,FH,FLCN,GPC3, HNF1A,MET,MLH1,MSH2,MSH6,MUTYH,NBN,NF1,PALB2,PMS2,POLD1,POLE,PTEN,RAD50,RAD51C, RAD51D,SDHB,SDHC,SDHD,SMAD4,SMARCB1,STK11,TP53,TSC1,TSC2,VHL,WT1 12-04-23 Multigenetic panel - 2 Norma Rossi - Sanatorio Allende



Variants

2 entries on 1 page. Showing entries 1 - 2.
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Chr     

Allele     

Effect     

AscendingDNA change (genomic) (hg38)     

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2 Unknown ?/? g.47791000A>G - MSH6_000067 rs864622397 - Norma Rossi - Sanatorio Allende MSH6 2 NM_000179.2:c.334A>G p.(Asn112Asp) Hetero no r.(334a>g) -
17 Unknown ?/? g.31226621A>T - NF1_000021 rs758893131 - Norma Rossi - Sanatorio Allende NF1 18 NM_000267.3:c.2188A>T p.(Asn730Tyr) Hetero no r.(2188a>u) -
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