Variant #0000008363 (NC_000022.11:g.28734024T>C, NC_000022.11(NM_007194.3):c.319+379A>G (CHEK2))
Individual ID |
00001497 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Not classified |
Affects function (by curator) |
Probably does not affect function |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.28734024T>C |
Reference |
- |
DB-ID |
CHEK2_000007 See all 11 reported entries |
dbSNP ID |
- |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Silvina Sisterna-Hospital de Comunidad |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Instituto Nacional del Cancer |
Date created |
2020-10-26 13:00:09 -03:00 (-03) |
Date last edited |
N/A |
Variant on transcripts
Screenings
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