Individual #00002054

Ethnic origin Spanish/French
Reference -
Remarks -
Cuadro familiar -
Panel size 1
Diseases --
Owner name Pablo Kalfayan - Consultorio Particular.
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     
0000002341 DNA SEQ-NG IACA Panel HRR de AmoyDx (32 genes) AR, ATM, ATR, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CDK12, CHEK1, CHEK2, ESR1, FANCA, FANCL, HDAC2, HOXB13, MRE11, NBN, PALB2, PPP2R2A, PTEN, RAD51B, RAD51C, RAD51D, RAD54L, STK11, TP53, BRAF, ERBB2, KRAS, NRAS, PIK3CA 30-nov-2021 Multigenetic panel - 2 Pablo Kalfayan - Consultorio Particular.



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     

Gene     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
13 Unknown +/+ g.5001_5188del - BRCA2_000262 - Deletion exon 1 Pablo Kalfayan - Consultorio Particular. BRCA2 1 NM_000059.3:c.-227_-40del p.? Hetero N/A r.? -
17 Unknown ?/? g.39531110G>A - CDK12_000001 rs201512860 - Pablo Kalfayan - Consultorio Particular. CDK12 14 NM_016507.4:c.4267G>A p.Ala1423Thr Hetero BRCA2 r.(4267g>a) -
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