Variant #0000478751 (NC_000002.11:g.29294424T>A, NM_001298.2:c.-69668611T>A (CNGA3))
Individual ID |
00234409 |
Chromosome |
2 |
Allele |
Unknown |
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.29294424T>A |
DNA change (hg38) |
g.29071558T>A |
Published as |
- |
ISCN |
- |
DB-ID |
C2orf71_000096 See all 3 reported entries |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Unknown |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
IMGAG |
Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
Created by |
IMGAG |
Date created |
2019-05-17 09:46:50 +02:00 (CEST) |
Date last edited |
2019-05-17 09:58:16 +02:00 (CEST) |

Variant on transcripts
Screenings
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