Variant #0000002480 (NC_000017.11:g.43092198delT, NM_007294.3:c.3333delA (BRCA1))
Individual ID |
00000544 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.43092198delT |
Published as |
- |
Reference |
Ava Kwong et al.(2016) |
DB-ID |
BRCA1_000129 |
dbSNP ID |
rs80357966 |
Frequency |
- |
Variant remarks |
Mutation type: Deletion - frameshift |
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 |
2021-03-24 15:44:56 +08:00 (CST) |
Date last edited |
2021-08-01 12:33:01 +08:00 (CST) |

Variant on transcripts
Screenings
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