Variant #0000009521 (NC_000013.11:g.5001_5188del, BRCA2(NM_000059.3):c.-227_-40del)
Individual ID |
00002054 |
Chromosome |
13 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.5001_5188del |
Reference |
- |
DB-ID |
BRCA2_000262 |
dbSNP ID |
- |
Variant remarks |
Deletion exon 1 |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Pablo Kalfayan - Consultorio Particular. |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Variant on transcripts
Screenings
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