NDUFS1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFS1
Gene name NADH dehydrogenase (ubiquinone) Fe-S protein 1, 75kDa (NADH-coenzyme Q reductase)
Chromosome 2
Chromosomal band q33-q34
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001199981.1, NM_001199982.1, NM_001199983.1, NM_001199984.1, NM_005006.6
Associated with diseases 252010, 618226
Citation reference(s) -
Curators (0) -
Total number of public variants reported 64
Unique public DNA variants reported 56
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 7707
Entrez Gene 4719
PubMed articles NDUFS1
OMIM - Gene 157655
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618226 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5)
HGMD NDUFS1
GeneCards NDUFS1
GeneTests NDUFS1


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000202 2 transcript variant 3 NM_001199982.1 NP_001186911.1 64
00000203 2 transcript variant 4 NM_001199983.1 NP_001186912.1 64
00000204 2 transcript variant 2 NM_001199981.1 NP_001186910.1 64
00000205 2 transcript variant 1 NM_005006.6 NP_004997.4 64
00000206 2 transcript variant 5 NM_001199984.1 NP_001186913.1 64


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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