Variant #0000873900 (NC_000013.10:g.52515354A>G, NM_000053.3:c.3419T>C (ATP7B))

Individual ID 00414704
Chromosome 13
Allele Unknown
Affects function (as reported) Does not affect function
Affects function (by curator) Not classified
Classification method -
Clinical classification benign
DNA change (genomic) (Relative to hg19 / GRCh37) g.52515354A>G
DNA change (hg38) g.51941218A>G
Published as ATP7B 13:51413355 (hg18) het CM044579 84.6%
ISCN -
DB-ID ATP7B_000001 See all 90 reported entries
Variant remarks non-causative, heterozygous
Reference PubMed: Bell 2011
ClinVar ID -
dbSNP ID -
Origin Germline
Segregation ?
Frequency -
Re-site -
VIP -
Methylation -
Average frequency (gnomAD v.2.1.1) 0.56922 View details
Owner LOVD
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Anna Tracewska
Date created 2022-08-02 11:28:48 +02:00 (CEST)
Date last edited 2025-07-13 10:33:38 +02:00 (CEST)
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
ATP7B NM_000053.3 -/. - c.3419T>C r.(?) p.(Val1140Ala)



Screenings


AscendingScreening ID     

Template     

Technique     

Tissue     

Remarks     

Genes screened     

Variants found     

Owner     
0000415985 DNA;RNA SEQ-NG blood - GALT 14 LOVD


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