Individual #00002313

Ethnic origin Arabian
Reference -
Remarks -
Cuadro familiar Bladder cancer
Panel size 1
Diseases Breast cancer
Owner name Claudia Martin-Hospital de Córdoba
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     
0000002684 DNA SEQ-NG Hospital Privado Centro Médico de Córdoba hereditary cancer panel (105 genes) 17-01-23 Multigenetic panel - 7 Claudia Martin-Hospital de Córdoba



Variants

7 entries on 1 page. Showing entries 1 - 7.
Legend   How to query  

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     
3 Unknown ?/? g.14147333C>T - XPC_000001 rs372943289 - Claudia Martin-Hospital de Córdoba XPC 15 NM_004628.5:c.2561G>A p.(Gly854Asp) Hetero no r.(2561g>a) -
9 Unknown ?/? g.95249215G>A - FANCC_000005 rs18100361 - Claudia Martin-Hospital de Córdoba FANCC 2 NM_000136.2:c.77C>T p.(Ser26Phe) Hetero no r.(77c>u) -
11 Unknown ?/? g.22624763G>A - FANCF_000001 rs368170054 - Claudia Martin-Hospital de Córdoba FANCF 1 NM_022725.4:c.1048C>T p.(Leu350Phe) Hetero no r.(1048c>u) -
13 Unknown ?/? g.32363194T>G - BRCA2_000266 rs80359800 - Claudia Martin-Hospital de Córdoba BRCA2 18 NM_000059.4:c.7992T>G p.(Ile266Met) Hetero no r.(7992u>g) -
15 Unknown ?/? g.90765340C>T - BLM_000006 rs146077918 - Claudia Martin-Hospital de Córdoba BLM 9 NM_000057.3:c.2119C>T p.(Pro707Ser) Hetero no r.(2119c>u) -
15 Unknown ?/? g.90765340C>T - BLM_000006 rs146077918 - Claudia Martin-Hospital de Córdoba BLM 9 NM_000057.3:c.2119C>T p.(Pro707Ser) Hetero no r.(2119c>u) -
16 Unknown ?/? g.2079165G>T - TSC2_000003 rs146745242 - Claudia Martin-Hospital de Córdoba TSC2 27 NM_000548.3:c.3100G>A p.(Val1034Ile) Hetero no r.(3100g>a) -
Legend   How to query