Variant #0000004245 (NC_000008.11:g.89953658_89953670dup, NBN(NM_002485.4):c.1419_1431dup)

Individual ID 00000538
Chromosome 8
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg38 / GRCh38) g.89953658_89953670dup
Reference -
DB-ID NBN_000005
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Hospital Alemán
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Instituto Nacional del Cancer
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

Protein     

Zygosity     

Co_ocurrence     

RNA change     

Review status     
NBN NM_002485.4 +/+ 11 c.1419_1431dup p.(Cys478Argfs*31) Hetero N/A r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000606 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 13-dec-2017 Multigenetic panel - 1 Lina Nuñez-Hospital Alemán