Variant #0000000349 (NC_000008.10:g.90990521T>C, NM_002485.4:c.511A>G (NBN))

Chromosome 8
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Effect unknown
DNA change (genomic) (Relative to hg19 / GRCh37) g.90990521T>C
Reference -
DB-ID NBN_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 0.00121 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2023-07-17 13:36:59 +00:00 (UTC)
Date last edited N/A
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
NBN NM_002485.4 ?/? - c.511A>G r.(?) p.(Ile171Val)