Variant #0000001195 (NC_000002.12:g.210668271_210668282del, NM_001875.4:c.4088_4099del (CPS1))
Individual ID |
00000238 |
Chromosome |
2 |
Allele |
Parent #2 |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.210668271_210668282del |
Published as |
- |
Reference |
Ernie Zuraida Ali et al. (2016) |
DB-ID |
CPS1_000006 |
dbSNP ID |
- |
Frequency |
1/8 |
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 |
2020-12-09 11:23:03 +08:00 (CST) |
Date last edited |
2020-12-14 17:47:15 +08:00 (CST) |

Variant on transcripts
Screenings
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