SDHD gene homepage

This database is one of the TCA cycle gene variant databases
General information
Gene symbol SDHD
Gene name succinate dehydrogenase complex, subunit D, integral membrane protein
Chromosome 11
Chromosomal band q23
Imprinted Unknown
Genomic reference NG_012337.3
Transcript reference NM_003002.2
Exon/intron information NM_003002.2 exon/intron table
Associated with diseases CWS-3, PGL-1, pheochromocytoma, mitochondrial respiratory chain complex II deficiency, paraganglioma, gastric stromal sarcoma, tumor, carcinoid, intestinal
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Jean-Pierre Bayley and Peter Taschner
Total number of public variants reported 420
Unique public DNA variants reported 160
Individuals with public variants 526
Hidden variants 0
Notes This database is one of the TCA cycle gene variant databases (formerly SDH Complex databases)
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 January 05, 2005
Date last updated December 08, 2018
Version SDHD:181208

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_003002.2.
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 http://www.LOVD.nl/SDHD
External URL Orphanet
HGNC 10683
Entrez Gene 6392
PubMed articles SDHD
OMIM - Gene 602690
OMIM - Diseases CWS-3 (Cowden syndrome, type 3 (CWS-3))
PGL-1 (paragangliomas, type 1 (PGL-1))
pheochromocytoma
mitochondrial respiratory chain complex II deficiency
paraganglioma, gastric stromal sarcoma
tumor, carcinoid, intestinal
HGMD SDHD
GeneCards SDHD
GeneTests SDHD


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00018578 11 succinate dehydrogenase complex, subunit D, integral membrane protein NM_003002.2 NP_002993.1 420


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 © 2005-2019. 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.