Variant #0000000384 (NC_000013.10:g.52513266T>C, ATP7B(NM_000053.3):c.3620A>G)
Individual ID |
00000006 |
Chromosome |
13 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.52513266T>C |
DNA change (hg38) |
g.51939130T>C |
Published as |
- |
ISCN |
- |
DB-ID |
ATP7B_000002 See all 11 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.02947 View details |
Owner |
Gerard C.P. Schaafsma |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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