NDUFS8 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFS8
Gene name NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase)
Chromosome 11
Chromosomal band q13.2
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_002496.3
Associated with diseases 252010, 618222
Citation reference(s) -
Curators (0) -
Total number of public variants reported 36
Unique public DNA variants reported 29
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 07, 2013
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
HGNC 7715
Entrez Gene 4728
PubMed articles NDUFS8
OMIM - Gene 602141
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618222 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 2)
HGMD NDUFS8
GeneCards NDUFS8
GeneTests NDUFS8


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000218 11 NADH dehydrogenase (ubiquinone) Fe-S protein 8, 23kDa (NADH-coenzyme Q reductase) NM_002496.3 NP_002487.1 36


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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