NDUFAF1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
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 NC_000015.9
Transcript reference NM_016013.3, NR_045620.1
Associated with diseases 252010, 618234
Citation reference(s) -
Curators (0) -
Total number of public variants reported 29
Unique public DNA variants reported 26
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 18828
Entrez Gene 51103
PubMed articles NDUFAF1
OMIM - Gene 606934
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618234 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 11)
HGMD NDUFAF1
GeneCards NDUFAF1
GeneTests NDUFAF1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000193 15 transcript variant 1 NM_016013.3 NP_057097.2 29
00000194 15 transcript variant 2 NR_045620.1 - 29


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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