Variant #0000006571 (NC_000022.11:g.28734439G>A, NM_007194.3:c.283C>T (CHEK2))
Individual ID |
00001046 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Affects function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.28734439G>A |
Reference |
- |
DB-ID |
CHEK2_000026 |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Pablo Kalfayan-Hospital Italiano |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2020-02-11 12:38:00 -02:00 (-02) |
Date last edited |
N/A |
Variant on transcripts
Screenings
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