Variant #0000009502 (NC_000022.11:g.28710060C>A, NC_000022.11(NM_007194.3):c.793-1G>A (CHEK2))
Individual ID |
00002146 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.28710060C>A |
Reference |
- |
DB-ID |
CHEK2_000049 See all 3 reported entries |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Lina Nuñez-Private Practice |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2023-04-19 11:35:13 -03:00 (-03) |
Date last edited |
N/A |
Variant on transcripts
Screenings
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