Variant #0000089197 (NC_000022.10:g.(?_41488222)_(41489103_41513190)del, NC_000022.10(NM_001429.3):c.(?_-787)_(94+1_95-1)del (EP300))
| Individual ID |
00058635 |
| Chromosome |
22 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Affects function |
| Classification method |
- |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(?_41488222)_(41489103_41513190)del |
| DNA change (hg38) |
- |
| Published as |
deletion ex1 |
| ISCN |
- |
| DB-ID |
EP300_000001 |
| Variant remarks |
detected by 4 MLPA probes |
| Reference |
PubMed: Roelfsema 2005 |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
De novo |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Johan den Dunnen |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2007-06-22 15:00:00 +02:00 (CEST) |
| Date last edited |
2016-09-28 16:45:52 +02:00 (CEST) |

Variant on transcripts
Screenings
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