Variant #0000016617 (NC_000012.11:g.88465567del, NM_025114.3:c.5850del (CEP290))
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic (recessive) |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.88465567del |
DNA change (hg38) |
g.88071790del |
Published as |
5850delT (Phe1950fs) |
ISCN |
- |
DB-ID |
CEP290_000092 See all 10 reported entries |
Variant remarks |
CEP290 database |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
SUMMARY record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Anne Polvi |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Anne Polvi |
Date created |
2012-12-04 16:02:59 +01:00 (CET) |
Date last edited |
2023-11-27 21:40:50 +01:00 (CET) |

Variant on transcripts
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