NDUFAF5 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFAF5
Gene name NADH dehydrogenase (ubiquinone) complex I, assembly factor 5
Chromosome 20
Chromosomal band p12.1
Imprinted Unknown
Genomic reference NC_000020.10
Transcript reference NM_001039375.2
Associated with diseases 252010, 618238
Citation reference(s) -
Curators (1) Lishuang Shen
Total number of public variants reported 7
Unique public DNA variants reported 5
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 13, 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 15899
Entrez Gene 79133
PubMed articles NDUFAF5
OMIM - Gene 612360
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618238 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 16)
HGMD NDUFAF5
GeneCards NDUFAF5
GeneTests NDUFAF5


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00003328 20 transcript variant 2 NM_001039375.2 NP_001034464.1 7


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Sources: GeneDX http://www.genedx.com

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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