Variant #0000003914 (NC_000008.11:g.89982774G>A, NBN(NM_002485.4):c.119C>T)

Individual ID 00000489
Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg38 / GRCh38) g.89982774G>A
Reference -
DB-ID NBN_000003
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 ?/? 2 c.119C>T p.(Ser40Leu) Hetero no r.(?) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000551 DNA SEQ-NG GENDA;COLOR Hereditary Cancer Risk Test (30 genes) 23-apr-2018 Multigenetic panel - 1 Lina Nuñez-Hospital Alemán