Variant #0000797969 (NC_000012.11:g.88471040C>A, NM_025114.3:c.5668G>T (CEP290))
Individual ID |
00382514 |
Chromosome |
12 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.88471040C>A |
DNA change (hg38) |
g.88077263C>A |
Published as |
CEP290 c.5668G>T, p.(Gly1890*) |
ISCN |
- |
DB-ID |
CEP290_000088 See all 73 reported entries |
Variant remarks |
single heterozygous variant (recessive) |
Reference |
PubMed: Jespersgaar 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0001 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-09 12:39:39 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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