Variant #0000005814 (NC_000008.11:g.89958707G>A, NBN(NM_002485.4):c.1124+18C>T)

Individual ID 00000838
Chromosome 8
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Does not affect function
DNA change (genomic) (Relative to hg38 / GRCh38) g.89958707G>A
Reference -
DB-ID NBN_000008 See all 3 reported entries
dbSNP ID -
Variant remarks -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Lina Nuñez-Private Practice
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 -/- 9i c.1124+18C>T p.(=) Hetero no r.(=) -



Screenings


AscendingScreening ID     

Template     

Technique     

Lab     

Remarks     

Date of test     

Type of test     

Genes screened     

Variants found     

Owner     
0000000991 DNA SEQ-NG CEMIC - 21-mar-2019 Multigenetic panel ATM, BRCA1, BRCA2, CHEK2, NBN, PALB2, PTEN, STK11, TP53 18 Lina Nuñez-Private Practice