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| General information |
| Gene name |
gap junction protein, beta 2, 26kDa |
| Gene symbol |
GJB2 |
| Chromosome Location |
13q11-q12 |
| Database location |
https://research.cchmc.org/LOVD2/ |
| Curator |
Ammar Husami |
| PubMed references |
View all (unique) PubMed references in the GJB2 database |
| Date of creation |
December 29, 2006 |
| Last update |
October 24, 2017 |
| Version |
GJB2 171024 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
coding DNA reference sequence for describing sequence variants |
| Genomic refseq ID |
NC_000013.9 |
| Exon/intron information |
Exon/intron information table |
| Total number of unique DNA variants reported |
227 |
| Total number of individuals with variant(s) |
8 |
| Total number of variants reported |
236 |
| Subscribe to updates of this gene |
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| Graphical displays and utilities |
| Summary tables |
Summary of all sequence variants in the GJB2 database, sorted by type of variant (with graphical displays and statistics) |
| Reading-frame checker |
The Reading-frame checker generates a prediction of the effect of whole-exon changes |
| Search the database |
| By type of variant |
View all sequence variants of a certain type |
| Simple search |
Query the database by selecting the most important variables (exon number, type of variant, disease phenotype) |
| Advanced search |
Query the database by selecting a combination of variables |
| Based on patient origin |
View all variants based on your patient origin search terms |
For research use. Husami et al. 2006-2010
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