| General information |
| Gene name |
beta globin |
| Gene symbol |
HBB |
| Chromosome Location |
11p15.4 |
| Database location |
lovd.bx.psu.edu |
| Curator |
Belinda Giardine and Joseph Borg |
| Database reference for citations |
[Giardine B. et al.] |
| PubMed references |
View all (unique) PubMed references in the HBB database |
| Date of creation |
October 28, 2008 |
| Last update |
August 17, 2023 |
| Version |
HBB230817 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Reference sequence file |
Genomic reference sequence for describing sequence variants |
| Genomic refseq ID |
NG_000007.3 |
| Transcript refseq ID |
NM_000518.4 |
| Total number of unique DNA variants reported |
947 |
| Total number of individuals with variant(s) |
1004 |
| Total number of variants reported |
1004 |
| Subscribe to updates of this gene |
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| NOTE |
This information is a subset of the HbVar database. To submit new variants do not use the LOVD interface, instead send an email to hbvar-curators@bio.cse.psu.edu |
| 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 |
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2024. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.
We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided. |
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