NDUFB3 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol NDUFB3
Gene name NADH dehydrogenase (ubiquinone) 1 beta subcomplex, 3, 12kDa
Chromosome 2
Chromosomal band q33.1
Imprinted Unknown
Genomic reference NC_000002.11
Transcript reference NM_001257102.1, NM_002491.2
Associated with diseases 252010, 618246
Citation reference(s) -
Curators (0) -
Total number of public variants reported 3
Unique public DNA variants reported 2
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 7698
Entrez Gene 4709
PubMed articles NDUFB3
OMIM - Gene 603839
OMIM - Diseases 252010 (Mitochondrial complex I deficiency, 252010 (3))
618246 (MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 25)
HGMD NDUFB3
GeneCards NDUFB3
GeneTests NDUFB3


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000196 2 transcript variant 2 NM_001257102.1 NP_001244031.1 3
00000197 2 transcript variant 1 NM_002491.2 NP_002482.1 3


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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