Variant #0000065850 (NC_000001.10:g.197297619del, CRB1(NM_201253.2):c.138del)
Individual ID |
00038299 |
Chromosome |
1 |
Allele |
Unknown |
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.197297619del |
DNA change (hg38) |
g.197328489del |
Published as |
c.[136delA] |
ISCN |
- |
DB-ID |
CRB1_000066 See all 6 reported entries |
Variant remarks |
- |
Reference |
PubMed: Li 2014 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Frans Cremers |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Frans Cremers |
Date created |
2015-05-01 22:00:00 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
|
|