Variant #0000794298 (NC_000004.11:g.47951884del, NM_001142564.1:c.472del (CNGA1))
Individual ID |
00379820 |
Chromosome |
4 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47951884del |
DNA change (hg38) |
g.47949867del |
Published as |
NM_000087.3:c.265del, NP_000078.2:p.(Leu89PhefsTer4), NC_000004.11:g.47951884del |
ISCN |
- |
DB-ID |
CNGA1_000047 See all 16 reported entries |
Variant remarks |
different transcript (NM_000087.3) in publication |
Reference |
PubMed: Wang 2018 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
? |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.0001 View details |
Owner |
LOVD |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Anna Tracewska |
Date created |
2021-08-10 08:08:19 +02:00 (CEST) |
Date last edited |
N/A |

Variant on transcripts
Screenings
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