Variant #0000002273 (NC_000005.10:g.112827199T>G, NM_000038.5:c.1500T>G (APC))
Individual ID |
00000490 |
Chromosome |
5 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.112827199T>G |
Published as |
Y482X, Y500X |
Reference |
dbSNP, (OMIM 0004), ClinVar |
DB-ID |
APC_000030 |
dbSNP ID |
rs387906230 |
Frequency |
1/10 |
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 |
Date created |
2021-03-08 15:57:14 +08:00 (CST) |
Date last edited |
2021-08-01 13:17:07 +08:00 (CST) |

Variant on transcripts
Screenings
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