Variant #0000002103 (NC_000006.12:g.145627654T>A, NM_001018041.1:c.758A>T (EPM2A))
Individual ID |
00000450 |
Chromosome |
6 |
Allele |
Both (homozygous) |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.145627654T>A |
Published as |
- |
Reference |
Sow Kuan Tee et al.(2019) |
DB-ID |
EPM2A_000001 |
dbSNP ID |
rs749937487 |
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 |
2021-02-23 12:04:29 +08:00 (CST) |
Date last edited |
2021-08-01 13:04:47 +08:00 (CST) |

Variant on transcripts
Screenings
|
|