Variant #0000000791 (NC_000022.11:g.28695734_28695758del, CHEK2(NM_007194.3):c.1211_1235del)
Individual ID |
00000160 |
Chromosome |
22 |
Allele |
Unknown |
Affects function (as reported) |
Probably affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.28695734_28695758del |
Published as |
Y404fs |
Reference |
P S Ng et al. (2016) |
DB-ID |
CHEK2_000004 |
dbSNP ID |
- |
Frequency |
1/3 |
Variant remarks |
- |
Average frequency (gnomAD v.2.1.1) |
Retrieve |
Owner |
Nuur Athirah Binti Mohd Daud |
Database submission license |
Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International |
Created by |
Nuur Athirah Binti Mohd Daud |
Variant on transcripts
Screenings
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