Variant #0000089866 (NC_000003.11:g.130650928G>A, NM_001001486.1:c.180G>A (ATP2C1))
| Individual ID |
00059100 |
| Chromosome |
3 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.130650928G>A |
| DNA change (hg38) |
g.130932084G>A |
| Published as |
c.683A>G |
| ISCN |
- |
| DB-ID |
ATP2C1_000174 |
| Variant remarks |
- |
| Reference |
PubMed: Tian 2013 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Unknown |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Michel van Geel |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Michel van Geel |
| Date created |
2016-02-21 17:41:22 +01:00 (CET) |
| Date last edited |
N/A |

Variant on transcripts
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