Variant #0000000272 (NC_000012.11:g.88512314del, CEP290(NM_025114.3):c.1666del)
Individual ID |
00000023 |
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.88512314del |
DNA change (hg38) |
g.88118537del |
Published as |
- |
ISCN |
- |
DB-ID |
CEP290_000144 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Gerard C.P. Schaafsma |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Gerard C.P. Schaafsma |

Variant on transcripts
Screenings
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