Variant #0000841058 (NC_000002.11:g.(215661842_215674135)_(215674428_?)del, NM_000465.2:c.-135_(158+1_159-1){0} (BARD1))
| Individual ID |
00403812 |
| Chromosome |
2 |
| Allele |
Unknown |
| Affects function (as reported) |
Affects function |
| Affects function (by curator) |
Not classified |
| Classification method |
ACMG |
| Clinical classification |
pathogenic |
| DNA change (genomic) (Relative to hg19 / GRCh37) |
g.(215661842_215674135)_(215674428_?)del |
| DNA change (hg38) |
- |
| Published as |
(-135_-1)(158+1_159-1)del |
| ISCN |
- |
| DB-ID |
BARD1_000500 |
| Variant remarks |
- |
| Reference |
- |
| ClinVar ID |
- |
| dbSNP ID |
- |
| Origin |
Germline |
| Segregation |
- |
| Frequency |
- |
| Re-site |
- |
| VIP |
- |
| Methylation |
- |
| Average frequency (gnomAD v.2.1.1) |
Retrieve |
| Owner |
Ana Osorio |
| Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
| Created by |
Ana Osorio |
| Date created |
2022-02-23 12:08:31 +01:00 (CET) |
| Date last edited |
2022-02-24 08:53:04 +01:00 (CET) |

Variant on transcripts
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