Variant #0000065924 (NC_000001.10:g.197313508T>G, CRB1(NM_201253.2):c.750T>G)
Individual ID |
00037775 |
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.197313508T>G |
DNA change (hg38) |
g.197344378T>G |
Published as |
885T>G |
ISCN |
- |
DB-ID |
CRB1_000009 See all 14 reported entries |
Variant remarks |
not in 100 controls |
Reference |
PubMed: den Hollander 1999 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
ApaI+;BanII+;BmrI+;BsrI+;PspOMI+;HpyCH4III- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
Frans Cremers |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Frans Cremers |

Variant on transcripts
Screenings
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