Variant #0000000898 (NC_000017.11:g.50191979C>T, NC_000017.11(NM_000088.3):c.2028+1G>A (COL1A1))
Individual ID |
00000182 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.50191979C>T |
Published as |
- |
Reference |
Nadiah Mohd Nawawi et al. (2018) |
DB-ID |
COL1A1_000007 |
dbSNP ID |
- |
Frequency |
1/14 |
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 11:21:25 +08:00 (CST) |
Date last edited |
2020-12-14 16:47:52 +08:00 (CST) |

Variant on transcripts
Screenings
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