Variant #0000002614 (NC_000022.11:g.50626211A>G, NM_000487.5:c.922T>C (ARSA))
Individual ID |
00000505 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.50626211A>G |
Published as |
- |
Reference |
Barry Eng et al.(2003) |
DB-ID |
ARSA_000002 |
dbSNP ID |
rs199476379 |
Frequency |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nur Aisyah Athirah |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nur Aisyah Athirah |
Date created |
2021-04-19 10:25:12 +08:00 (CST) |
Date last edited |
2021-08-01 13:22:15 +08:00 (CST) |

Variant on transcripts
Screenings
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