Variant #0000794077 (NC_000004.11:g.47953418del, NM_001142564.1:c.398delG (CNGA1))
Individual ID |
00379659 |
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47953418del |
DNA change (hg38) |
.47951401del |
Published as |
- |
ISCN |
- |
DB-ID |
CNGA1_000081 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline/De novo (untested) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Jinu Han |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
Jinu Han |
Date created |
2021-08-06 07:51:35 +02:00 (CEST) |
Date last edited |
2021-08-06 19:58:27 +02:00 (CEST) |

Variant on transcripts
Screenings
|