LOVD SDHC homepage

General information
Gene name Succinate dehydrogenase, subunit C
Gene symbol SDHC
Chromosome Location 1q21
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 SDHC database
Date of creation January 05, 2005
Last update November 06, 2012
Version SDHC121106
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_012767.1
Transcript refseq ID NM_003001.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 47
Total number of individuals with variant(s) 42
Total number of variants reported 42
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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.)

SIFT (Sorting Intolerant From Tolerant) analysis of missense variants. SIFT assumes that important amino acids will be conserved, using sequence homology to predict whether an amino acid substitution will affect protein function and potentially alter the phenotype (Ng & Henikoff. Nucleic Acids Res.(2003)31(13):3812-4

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 SDHC database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the SDHC database, without patient data
Complete sequence variant listing Listing of all sequence variants in the SDHC database
Variants with no known pathogenicity Listing of all SDHC variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)
Download table Download the full sequence variant table of the SDHC database in tab-delimited text format.

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

Links to other resources
HGNC 10682
Entrez Gene 6391
OMIM - Gene 602413
OMIM - Disease Paragangliomas
UniProtKB (SwissProt/TrEMBL) Q99643
HGMD SDHC
GeneCards SDHC
GeneTests SDHC
External link #1 Orphanet
External link #2 Visitor Statistics - SDH Database
External link #3 Other activities

Copyright & disclaimer
Disclaimer: Inclusion of sequence variants in the SDH mutation database does not imply that there is convincing evidence for pathogenicity.