|
| General information |
| Gene name |
Succinate dehydrogenase, subunit A |
| Gene symbol |
SDHA |
| Chromosome Location |
5p15 |
| Database location |
http://chromium.liacs.nl/LOVD2/SDH/home.php |
| Curator |
Dr. J.P.L. Bayley and Dr. Peter E.M. Taschner |
| Database reference for citations |
Bayley et al., 2005 |
| PubMed references |
View all (unique) PubMed references in the SDHA database |
| Date of creation |
January 05, 2005 |
| Last update |
August 19, 2010 |
| Version |
SDHA100819 |
| Add sequence variant |
Submit a sequence variant |
| First time submitters |
Register here |
| Total number of unique DNA variants reported |
12 |
| Total number of individuals with variant(s) |
12 |
| Total number of variants reported |
16 |
| Subscribe to updates of this gene |
 |
| NOTE |
CITATION: If you benefit from the use of this database and publish findings, please cite; (Bayley JP, Devilee P, Taschner PE. BMC Med Genet. 2005 Nov 16;6:39.)
SDHA has not yet been associated with paragangliomas and pheochromocytomas in spite of several investigations. SDHA has at least one pseudogene, which is located on chromosome 3p29 (Parfait et al., 2000). The pseudogene(s) may interfere with sequence variation detection. The variants included in the database were derived from the published literature or submitted directly and, where necessary, annotated to conform to current HGVS mutation nomenclature. When you notice any omissions or mistakes, please let us know (thank you). |
| Graphical displays and utilities |
| Summary tables |
Summary of all sequence variants in the SDHA database, sorted by type of variant (with graphical displays and statistics) |
| 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 |
| Disclaimer: Inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity. |
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