Variant #0000812202 (NC_000001.10:g.197313410G>T, CRB1(NM_201253.2):c.653-1G>T)
Individual ID |
00384028 |
Chromosome |
1 |
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.197313410G>T |
DNA change (hg38) |
g.197344280G>T |
Published as |
CRB1 Ex.2 c.481G>A p.(Ala161Thr), IVS2 c.653-1G>T p.(?) |
ISCN |
- |
DB-ID |
CRB1_000454 See all 2 reported entries |
Variant remarks |
compound heterozygous |
Reference |
PubMed: Martin Merida 2019 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
2.0E-5 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |

Variant on transcripts
Screenings
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