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 International |
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) |

Variant on transcripts
Screenings
|