Variant #0000085691 (NC_000003.11:g.130675026A>T, NC_000003.11(NM_001001486.1):c.832+3A>T (ATP2C1))
| Individual ID |
00055723 |
| 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.130675026A>T |
| DNA change (hg38) |
g.130956182A>T |
| Published as |
- |
| ISCN |
- |
| DB-ID |
ATP2C1_000107 See all 2 reported entries |
| Variant remarks |
- |
| Reference |
PubMed: Dobson-Stone 2002 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
yes |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Michel van Geel |
| Date created |
2012-01-29 14:27:41 +01:00 (CET) |
| Date last edited |
2016-02-20 14:07:12 +01:00 (CET) |

Variant on transcripts
Screenings
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