Variant #0000000308 (NC_000013.10:g.52536042C>G, NM_000053.3:c.1877G>C (ATP7B))

Chromosome 13
Allele Unknown
Affects function (as reported) Affects function
Affects function (by curator) Affects function
DNA change (genomic) (Relative to hg19 / GRCh37) g.52536042C>G
Reference -
DB-ID ATP7B_000006
Frequency -
Average frequency (gnomAD v.2.1.1) 9.0E-5 View details
Owner Florian Bayersdorfer
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Florian Bayersdorfer
Date created 2023-07-13 09:22:14 +00:00 (UTC)
Date last edited N/A
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP7B NM_000053.3 +/+ 6 c.1877G>C r.(?) p.(Gly626Ala)