Variant #0000001067 (NC_000007.14:g.66083164C>T, NM_000048.3:c.436C>T (ASL))
Individual ID |
00000212 |
Chromosome |
7 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.66083164C>T |
Published as |
- |
Reference |
Ernie Zuraida Ali et al. (2019), ClinVar |
DB-ID |
ASL_000002 |
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 |
2020-12-02 11:32:27 +08:00 (CST) |
Date last edited |
2020-12-14 17:15:26 +08:00 (CST) |

Variant on transcripts
Screenings
|
|