Variant #0000055778 (NC_000017.10:g.41258450A>T, NC_000017.10(NM_007294.3):c.212+23T>A (BRCA1))
Chromosome |
17 |
Allele |
Unknown |
Affects function (as reported) |
Effect unknown |
Affects function (by curator) |
Not classified |
Classification method |
- |
Clinical classification |
NA |
DNA change (genomic) (Relative to hg19 / GRCh37) |
g.41258450A>T |
DNA change (hg38) |
g.43106433A>T |
Published as |
c.212+23 T>A |
ISCN |
- |
DB-ID |
BRCA1_001166 See all 14 reported entries |
Variant remarks |
exon inclusion; no splicing defect |
Reference |
PubMed: Théry 2011 |
ClinVar ID |
- |
dbSNP ID |
- |
Origin |
In vitro (cloned) |
Segregation |
- |
Frequency |
- |
Re-site |
- |
VIP |
- |
Methylation |
- |
Average frequency (gnomAD v.2.1.1) |
0.00249 View details |
Owner |
Maaike Vreeswijk |
Database submission license |
Creative Commons Attribution 4.0 International |
Created by |
Maaike Vreeswijk |
Date created |
2014-02-19 14:08:12 +01:00 (CET) |
Date last edited |
2019-02-25 21:12:28 +01:00 (CET) |

Variant on transcripts
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