Genomic variant #0000258467

Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.52524488T>C
DNA change (hg38) -
Published as ATP7B:c.2495A>G (K832R)
ISCN -
DB-ID ATP7B_000079 See all 3 reported entries
Variant remarks VKGL data sharing initiative Nederland; correct HGVS to be checked
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (large NGS studies) 0.55217 View details
Owner VKGL-NL_AMC




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
ATP7B NM_000053.3 -/. - c.2495A>G benign r.(?) p.(Lys832Arg)