Variant #0000001229 (NC_000013.11:g.20189323_20189325del, NM_004004.6:c.257_259delCGC (GJB2))
Individual ID |
00000242 |
Chromosome |
13 |
Allele |
Unknown |
Affects function (as reported) |
Affects function |
Affects function (by curator) |
Not classified |
DNA change (genomic) (Relative to hg38 / GRCh38) |
g.20189323_20189325del |
Published as |
- |
Reference |
Siti Aishah Zainal et al. (2012) |
DB-ID |
GJB2_000010 |
dbSNP ID |
- |
Frequency |
1/32 |
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 |
2020-12-10 15:42:35 +08:00 (CST) |
Date last edited |
2020-12-14 17:48:07 +08:00 (CST) |

Variant on transcripts
Screenings
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