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? ( Make sure to use this gene-transcript configuration: NG_023393.1(NM_017841.2):

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

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_017841.2.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 26034
Entrez Gene 54949
PubMed articles SDHAF2
OMIM - Gene 613019
OMIM - Diseases PGL2 (paragangliomas, type 2 (PGL-2))
GeneCards SDHAF2
GeneTests SDHAF2
Orphanet SDHAF2

Active transcripts




NCBI ID     

NCBI Protein ID     

00018572 11 succinate dehydrogenase complex assembly factor 2 NM_017841.2 NP_060311.1 27

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.