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
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