Variant #0000000834 (NC_000023.11:g.38369824_38369825delinsAG, NM_000531.5:c.245_246delinsAG (OTC))
Individual ID |
00000173 |
Chromosome |
X |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.38369824_38369825delinsAG |
Published as |
c.245_246delTAinsAG |
Reference |
Ernie Zuraida Ali et al. (2018) |
DB-ID |
OTC_000008 |
dbSNP ID |
- |
Frequency |
1/11 |
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 |
2020-11-22 11:55:21 +08:00 (CST) |
Date last edited |
2020-12-14 16:13:06 +08:00 (CST) |

Variant on transcripts
Screenings
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