Variant #0000797177 (NC_000001.10:g.197237613G>A, CRB1(NM_201253.2):c.70+1G>A)
Individual ID |
00381938 |
Chromosome |
1 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.197237613G>A |
DNA change (hg38) |
g.197268483G>A |
Published as |
allele 1: c.70+1G>A/p.?, allele 2: c.2042G>A/p.C681Y |
ISCN |
- |
DB-ID |
CRB1_000435 |
Variant remarks |
heterozygous |
Reference |
PubMed: Weisschuh 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
yes |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-09-06 14:12:14 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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