NDUFV1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFV1
Gene name NADH dehydrogenase (ubiquinone) flavoprotein 1, 51kDa
Chromosome 11
Chromosomal band q13
Imprinted Unknown
Genomic reference NC_000011.9
Transcript reference NM_001166102.1, NM_007103.3
Associated with diseases 252010, 618225
Citation reference(s) -
Curators (0) -
Total number of public variants reported 44
Unique public DNA variants reported 41
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 7716
Entrez Gene 4723
PubMed articles NDUFV1
OMIM - Gene 161015
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618225 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 4)
HGMD NDUFV1
GeneCards NDUFV1
GeneTests NDUFV1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000219 11 transcript variant 1 NM_007103.3 NP_009034.2 44
00000220 11 transcript variant 2 NM_001166102.1 NP_001159574.1 44


Copyright & disclaimer
Sources: GeneDX http://www.genedx.com ; NuclearMitome http://www.transgenomic.com ; MitoPhenome http://mitophenome.org ; MitoCarta http://www.broadinstitute.org/pubs/MitoCarta/

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium

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