Variant #0000001119 (NC_000006.12:g.80343691_80343692insT, NM_183050.3:c.1066_1067insT (BCKDHB))
Individual ID |
00000223 |
Chromosome |
6 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.80343691_80343692insT |
Published as |
V356Cfs*3 |
Reference |
Ernie Zuraida Ali et al. (2018) |
DB-ID |
BCKDHB_000012 |
dbSNP ID |
- |
Frequency |
1/5 |
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 11:42:24 +08:00 (CST) |
Date last edited |
2020-12-14 17:20:51 +08:00 (CST) |

Variant on transcripts
Screenings
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