Variant #0000085065 (NC_000003.11:g.130674960_130674963dup, NM_001001486.1:c.769_772dup (ATP2C1))
| Individual ID |
00055091 |
| Chromosome |
3 |
| Allele |
Parent #1 |
| 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.130674960_130674963dup |
| DNA change (hg38) |
g.130956116_130956119dup |
| Published as |
767insertCCCT |
| ISCN |
- |
| DB-ID |
ATP2C1_000015 |
| Variant remarks |
NM_014382.3 |
| Reference |
PubMed: Hu 2000, OMIM:var0001 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| 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 |
2011-10-21 19:20:17 +02:00 (CEST) |
| Date last edited |
2012-01-21 21:51:09 +01:00 (CET) |

Variant on transcripts
Screenings
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