Variant #0000065360 (NC_000001.10:g.197297593del, CRB1(NM_201253.2):c.112del)
Individual ID |
00037809 |
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.197297593del |
DNA change (hg38) |
g.197328463del |
Published as |
1 bp del codon 37 |
ISCN |
- |
DB-ID |
CRB1_000065 See all 3 reported entries |
Variant remarks |
unknown variant 2nd chromosome |
Reference |
PubMed: Lotery 2001 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
1/190 cases |
Re-site |
ApoI- |
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 |

Variant on transcripts
Screenings
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