Variant #0000000906 (NC_000007.14:g.94425847G>A, NM_000089.3:c.2933G>A (COL1A2))
Individual ID |
00000183 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.94425847G>A |
Published as |
- |
Reference |
Nadiah Mohd Nawawi et al. (2018), ClinVar |
DB-ID |
COL1A2_000003 |
dbSNP ID |
- |
Frequency |
2/5 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nuur Athirah Binti Mohd Daud |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Date created |
2020-11-24 11:59:11 +08:00 (CST) |
Date last edited |
2020-12-14 16:57:31 +08:00 (CST) |

Variant on transcripts
Screenings
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