Individual #00001932

Ethnic origin Italian
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Maria Constanza Vallone-Hospital Austral
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     
0000002219 DNA SEQ-NG Hospital Universitario Austral Panel (30 genes) BRCA1, BRCA2, MLH1, MSH2, MSH6, PMS2*, EPCAM*, APC, MUTYH, MITF*, BAP1, CDKN2A, CDK4*, TP53, PTEN, STK11, CDH1, BMPR1A, SMAD4, GREM1*, POLD1*, POLE*, PALB2, CHEK2, ATM, NBN, BARD1, BRIP1, RAD51C, RAD51D 23-aug-2021 Multigenetic panel - 3 Maria Constanza Vallone-Hospital Austral



Variants

3 entries on 1 page. Showing entries 1 - 3.
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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     

Co_ocurrence     

RNA change     

Review status     
1 Unknown +/+ g.45332803T>C - MUTYH_000021 - - Maria Constanza Vallone-Hospital Austral MUTYH 8 NM_001128425.1:c.536A>G p.(Tyr179Cys) Hetero NBN r.(536a>g) -
2 Unknown ?/? g.214781230T>C - BARD1_000027 - - Maria Constanza Vallone-Hospital Austral BARD1 4 NM_000465.3:c.644A>G p.(Asn215Ser) Hetero MUTYH;NBN r.(644a>g) -
8 Unknown +/+ g.89971217_89971221del - NBN_000021 - - Maria Constanza Vallone-Hospital Austral NBN 6 NM_002485.4:c.657_661del p.(Lys219Asnfs*16) Hetero MUTYH r.(657_661del) -
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