Variant #0000842164 (NC_000002.11:g.215674177G>A, NM_000465.2:c.117C>T (BARD1))
Individual ID |
00404743 |
Chromosome |
2 |
Allele |
Unknown |
Affects function (as reported) |
Does not affect function |
Affects function (by curator) |
Not classified |
Classification method |
ACMG |
Clinical classification |
benign |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.215674177G>A |
DNA change (hg38) |
- |
Published as |
- |
ISCN |
- |
DB-ID |
BARD1_000504 |
Variant remarks |
- |
Reference |
- |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
Germline |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
4.0E-5 View details |
Owner |
Ana Osorio |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Ana Osorio |
Date created |
2022-03-07 14:59:47 +01:00 (CET) |
Date last edited |
2022-03-07 15:41:38 +01:00 (CET) |

Variant on transcripts
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