Variant #0000001117 (NC_000006.12:g.80129187G>A, NM_183050.3:c.301G>A (BCKDHB))
Individual ID |
00000222 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.80129187G>A |
Published as |
G101S |
Reference |
Ernie Zuraida Ali et al. (2018), ClinVar |
DB-ID |
BCKDHB_000011 |
dbSNP ID |
- |
Frequency |
1 |
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 |
2020-12-06 11:26:09 +08:00 (CST) |
Date last edited |
2020-12-14 17:20:28 +08:00 (CST) |

Variant on transcripts
Screenings
|
|