Variant #0000002153 (NC_000017.11:g.43106478A>G, NM_007294.3:c.190T>C (BRCA1))
Individual ID |
00000406 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.43106478A>G |
Published as |
- |
Reference |
Wei Xiong Wen et al. (2018), dbSNP, ClinVar |
DB-ID |
BRCA1_000092 |
dbSNP ID |
rs80357064 |
Frequency |
1/1762 |
Variant remarks |
VUS (variants of unknown significance.) |
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 |
2021-02-24 12:01:12 +08:00 (CST) |
Date last edited |
2021-08-01 11:17:39 +08:00 (CST) |

Variant on transcripts
Screenings
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