Variant #0000337428 (NC_000001.10:g.197297540A>T, CRB1(NM_201253.2):c.71-12A>T)
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.197297540A>T |
DNA change (hg38) |
g.197328410A>T |
Published as |
CRB1(NM_001257965.2):c.-137-12A>T |
ISCN |
- |
DB-ID |
CRB1_000239 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.44765 View details |
Owner |
VKGL-NL_Nijmegen |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Nijmegen |

Variant on transcripts
|
|