The NDUFAF1 gene homepage

General information
Gene symbol NDUFAF1
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 1
Chromosome 15
Chromosomal band q11.2-q21.3
Imprinted Unknown
Genomic reference NG_031924.1
Transcript reference NM_016013.3, NR_045620.1
Associated with diseases MC1DN
Citation reference(s) -
Curators (1) Johan T. den Dunnen
Total number of public variants reported 21
Unique public DNA variants reported 6
Individuals with public variants 14
Hidden variants 6
Date created November 30, -0001
Date last updated September 28, 2016
Version NDUFAF1:160928

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:18828
Entrez Gene 51103
PubMed articles NDUFAF1
OMIM - Gene 606934
OMIM - Diseases MC1DN (mitochondrial complex I deficiency (MC1DN))


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00026167 15 transcript variant 1 NM_016013.3 NP_057097.2 21
00031819 15 Manually created transcript NR_045620.1 - -