The SDHAF2 gene homepage
LUMC SDHAF2 gene variant database
| General information |
| Gene symbol |
SDHAF2 |
| Gene name |
succinate dehydrogenase complex assembly factor 2 |
| Chromosome |
11 |
| Chromosomal band |
q12.2 |
| Imprinted |
Unknown |
| Genomic reference |
NG_023393.1 |
| Transcript reference |
NM_017841.2 |
| Exon/intron information |
NM_017841.2 exon/intron table |
| Associated with diseases |
PGL2 |
| Citation reference(s) |
- |
| Refseq URL |
Genomic reference sequence |
| Curators (1) |
Jean-Pierre Bayley |
| Total number of public variants reported |
27 |
| Unique public DNA variants reported |
20 |
| Individuals with public variants |
12 |
| Hidden variants |
- |
| Download all this gene's data |
Download all data |
| Notes |
Using Mutalyzer? (https://mutalyzer.nl/normalizer/) Make sure to use this gene-transcript configuration: NG_023393.1(NM_017841.2):
A VUS in PPGL/HNPGL?
In the opinion of the curator the use of the term “VUS” is now excessive. In the case of rare diseases with variants in known causative genes, the emphasis should not be conservative (as in common conditions) but should assume causation and seek supportive evidence (conservation, protein region affected, in silico prediction tools, number of time reported in patients and in gnomAD). Only when no supporting evidence is found should one use the term “VUS”.
CITATION: if you benefit from the use of this database and publish findings, please cite; Bayley JP, Devilee P, Taschner PE (2005). BMC Med Genet. 6:39
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).
Disclaimer: inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity. |
| Date created |
April 29, 2010 |
| Date last updated |
January 11, 2023 |
| Version |
SDHAF2:230111 |
Active transcripts
| Copyright & disclaimer |
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized 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 © 2010-2023. 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 from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), 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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