Variant #0000689305 (NC_000004.11:g.47973078C>T, NM_001142564.1:c.40G>A (CNGA1))
Chromosome |
4 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
VUS |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.47973078C>T |
DNA change (hg38) |
- |
Published as |
CNGA1(NM_001142564.1):c.40G>A (p.A14T), CNGA1(NM_001142564.2):c.-180G>A |
ISCN |
- |
DB-ID |
CNGA1_000058 See all 2 reported entries |
Variant remarks |
VKGL data sharing initiative Nederland |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
CLASSIFICATION record |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00023 View details |
Owner |
VKGL-NL_Rotterdam |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
VKGL-NL_Rotterdam |
Date created |
2020-09-15 15:50:26 +02:00 (CEST) |
Date last edited |
2023-01-11 15:44:22 +01:00 (CET) |

Variant on transcripts
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