Variant #0000916124 (NC_000004.11:g.47973036G>A, NM_001142564.1:c.82C>T (CNGA1))
Individual ID |
00429728 |
Chromosome |
4 |
Allele |
Parent #1 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
pathogenic |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47973036G>A |
DNA change (hg38) |
- |
Published as |
c.82C>T |
ISCN |
- |
DB-ID |
CNGA1_000123 |
Variant remarks |
- |
Reference |
PubMed: Panneman 2023 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Daan Panneman |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Julia Lopez |
Date created |
2023-01-11 18:53:49 +01:00 (CET) |
Date last edited |
2025-04-07 13:47:04 +02:00 (CEST) |

Variant on transcripts
Screenings
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