NDUFA11 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB

General information
Gene symbol	NDUFA11
Gene name	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 11, 14.7kDa
Chromosome	19
Chromosomal band	p13.3
Imprinted	Unknown
Genomic reference	NC_000019.9
Transcript reference	NM_001193375.1, NM_175614.4, NR_034166.2
Associated with diseases	252010, 618236
Citation reference(s)	-
Curators (0)	-
Total number of public variants reported	17
Unique public DNA variants reported	17
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	20371
Entrez Gene	126328
PubMed articles	NDUFA11
OMIM - Gene	612638
OMIM - Diseases	252010 (Mitochondrial complex I deficiency, 252010 (3)) 618236 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 14)
HGMD	NDUFA11
GeneCards	NDUFA11
GeneTests	NDUFA11

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
00000184	19	transcript variant 2	NM_001193375.1	NP_001180304.1	17
00000185	19	transcript variant 1	NM_175614.4	NP_783313.1	17
00000186	19	transcript variant 3	NR_034166.2	-	17

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

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium