The NDUFA1 gene homepage

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 NG_009381.1
Transcript reference NM_004541.3, NM_006978.2
Associated with diseases ID, MC1DN
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 10
Unique public DNA variants reported 3
Individuals with public variants 9
Hidden variants -
Date created November 30, -0001
Date last updated September 20, 2016
Version NDUFA1:160920

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
External URL List of LSDBs for this gene
The reference LOVD for this gene, if available
HGNC HGNC:7683
Entrez Gene 4694
PubMed articles NDUFA1
OMIM - Gene 300078
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026162 X NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 1, 7.5kDa NM_004541.3 NP_004532.1 10
00031571 X Manually created transcript (removed from reference sequence) NM_006978.2 - 10