Individual #00002587

Ethnic origin Spanish/spanish - Lituanian/Lituanian
Reference -
Remarks -
Cuadro familiar Acute lymphoblastic leukemia, Bile duct cancer, Endometrial cancer
Panel size 1
Diseases N/A
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     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000002886 DNA SEQ-NG Fundación para el Progreso de la Medicina Breast and Ovarian Cancer panel (30 genes) ATM, BARD1, BRCA1, BRCA2, BRIP1, CDH1, CHEK2, DICER1, EPCAM, FANCC, FANCM, MLH1, MSH2, MSH6, MUTYH, NBN, NF1, NF2, PALB2, PMS2, POLD1, PTEN, RAD50, RAD51C, RAD51D, SDHB, SDHD, STK11, TP53. 20-01-23 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)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Owner     

Gene     

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DNA change (cDNA)     

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Zygosity     

Co_ocurrence     

RNA change     

Review status     
9 Unknown ?/? g.95111543C>T - FANCC_000006 rs140687953 - Norma Rossi - Sanatorio Allende FANCC 13 NM_000136.2:c.1429G>A p.(Glu17Lys) Hetero no r.? -
17 Unknown ?/? g.31169939T>A - NF1_000016 rs112306990 - Norma Rossi - Sanatorio Allende NF1 5 NM_000267.3:c.528T>A p.(Asp176Glu) Hetero no r.(528u>a) -
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