NDUFA1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFA1
Gene name NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa
Chromosome X
Chromosomal band q24
Imprinted Unknown
Genomic reference NC_000023.10
Transcript reference NM_004541.3
Associated with diseases 252010, 301020
Citation reference(s) -
Curators (0) -
Total number of public variants reported 6
Unique public DNA variants reported 3
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 7683
Entrez Gene 4694
PubMed articles NDUFA1
OMIM - Gene 300078
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
301020 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 12)
HGMD NDUFA1
GeneCards NDUFA1
GeneTests NDUFA1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000182 X NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa NM_004541.3 NP_004532.1 6


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

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