NDUFS4 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	NDUFS4
Gene name	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)
Chromosome	5
Chromosomal band	q11.1
Imprinted	Unknown
Genomic reference	NC_000005.9
Transcript reference	NM_002495.2, XM_005248525.1
Associated with diseases	252010
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	26
Unique public DNA variants reported	22
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	7711
Entrez Gene	4724
PubMed articles	NDUFS4
OMIM - Gene	602694
OMIM - Diseases	252010 (Mitochondrial complex I deficiency, 252010 (3))
HGMD	NDUFS4
GeneCards	NDUFS4
GeneTests	NDUFS4

Active transcripts

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

ID	Chr	Name	NCBI ID	NCBI Protein ID	Variants
00000213	5	NADH dehydrogenase (ubiquinone) Fe-S protein 4, 18kDa (NADH-coenzyme Q reductase)	NM_002495.2	NP_002486.1	26
00000212	5	transcript variant X1	XM_005248525.1	XP_005248582.1	25

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