Variant #0000000957 (NC_000003.12:g.15645186G>C, NM_000060.4:c.1330G>C (BTD))
Individual ID |
00000194 |
Chromosome |
3 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.15645186G>C |
Published as |
c.1130G > A p.(Asp444His) |
Reference |
M Mardhiah et al. (2019) |
DB-ID |
BTD_000005 |
dbSNP ID |
rs587779489 |
Frequency |
1/6 |
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 |
2020-11-26 16:25:20 +08:00 (CST) |
Date last edited |
2021-09-08 13:14:24 +08:00 (CST) |

Variant on transcripts
Screenings
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