Variant #0000002327 (NC_000017.11:g.43092455_43092456insTGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC, NM_007294.3:c.3075_3076insGGAAAACTTTGAGGAACATTCAATGTCACCTGAAAGAGAAATGGGAAATGAGATCATTCCAAGTACAGTGAGCACA (BRCA1))
Individual ID |
00000512 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.43092455_43092456insTGTGCTCACTGTACTTGGAATGATCTCATTTCCCATTTCTCTTTCAGGTGACATTGAATGTTCCTCAAAGTTTTCC |
Published as |
- |
Reference |
Timothy R Rebbeck et al.(2018) |
DB-ID |
BRCA1_000114 |
dbSNP ID |
rs886040095 |
Frequency |
1/72 families |
Variant remarks |
- |
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 |
2021-03-14 17:10:25 +08:00 (CST) |
Date last edited |
2021-08-01 12:31:35 +08:00 (CST) |

Variant on transcripts
Screenings
|
|