The SDHD gene homepage

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_012337.2
Transcript reference NM_001276503.1, NM_001276504.1, NM_003002.3
Associated with diseases CWS-3, PGL-1, pheochromocytoma, mitochondrial respiratory chain complex II deficiency, paraganglioma, gastric stromal sarcoma, tumor, carcinoid, intestinal
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 41
Unique public DNA variants reported 8
Individuals with public variants 30
Hidden variants 9
Date created November 30, -0001
Date last updated September 28, 2016
Version SDHD:160928

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC 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


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026678 11 transcript variant 1 NM_003002.3 NP_002993.1 41
00031513 11 Manually created transcript NM_001276504.1 - 40
00031512 11 Manually created transcript NM_001276503.1 - 20