Variant #0000008942 (NC_000017.11:g.43067649_43067652del, NM_007294.3:c.5030_5033del (BRCA1))
Individual ID |
00001634 |
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.43067649_43067652del |
Reference |
- |
DB-ID |
BRCA1_000180 See all 6 reported entries |
dbSNP ID |
rs80357580 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Norma Rossi-Hospital de Córdoba |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2021-07-26 23:00:03 -03:00 (-03) |
Date last edited |
2024-09-05 19:09:51 -03:00 (-03) |
Variant on transcripts
Screenings
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