Individual #00002271

Ethnic origin Argentinian
Reference -
Remarks -
Cuadro familiar Breast cancer, Gastric cancer, Kidney cancer
Panel size 1
Diseases Kidney cancer
Owner name Lina Nuñez-Private Practice
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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Technique     

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Type of test     

Genes screened     

Variants found     

Owner     
0000002564 DNA SEQ-NG Genda Panel (84 genes) 03-03-20 Multigenetic panel - 3 Lina Nuñez-Private Practice



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     

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RNA change     

Review status     
1 Unknown +/+ g.17044792_17044796del - SDHB_000007 rs786202100 - Lina Nuñez-Private Practice SDHB 2 NM_003000.3:c.166_170del p.(Pro56Tyrfs*5) Hetero N/A r.(166_170del) -
8 Unknown +?/+ g.31147052G>A - WRN_000009 rs776963381 Splice acceptor Lina Nuñez-Private Practice WRN 28i NM_000553.6:c.3384-1G>A p.? Hetero SDHB r.spl? -
9 Unknown ?/? g.95453504C>T - PTCH1_000005 - - Lina Nuñez-Private Practice PTCH1 20 NM_000264.4:c.3423G>A p.(=) Hetero SDHB r.(3423g>a) -
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