Variant #0000847778 (NC_000004.11:g.47951903G>T, NM_001142564.1:c.453C>A (CNGA1))
Individual ID |
00409217 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
likely pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47951903G>T |
DNA change (hg38) |
g.47949886G>T |
Published as |
CNGA1 c.246C > A, p.Y82X |
ISCN |
- |
DB-ID |
CNGA1_000115 See all 2 reported entries |
Variant remarks |
different transcript: NM_000087.3(CNGA1):c.246C>A, p.(Tyr82*) = NM_001142564.1(CNGA1):c.453C>A, p.(Tyr151*); heterozygous |
Reference |
PubMed: Wang 2016 |
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 |
2022-05-05 14:21:41 +02:00 (CEST) |
Date last edited |
2022-05-05 14:22:22 +02:00 (CEST) |

Variant on transcripts
Screenings
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