OPA3 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol OPA3
Gene name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Chromosome 19
Chromosomal band q13.2-q13.3
Imprinted Unknown
Genomic reference NC_000019.9
Transcript reference NM_001017989.2, NM_025136.3
Associated with diseases MGCA3
Citation reference(s) -
Curators (0) -
Total number of public variants reported 186
Unique public DNA variants reported 184
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 8142
Entrez Gene 80207
PubMed articles OPA3
OMIM - Gene 606580
OMIM - Diseases MGCA3 (3-METHYLGLUTACONIC ACIDURIA, TYPE III)
HGMD OPA3
GeneCards OPA3
GeneTests OPA3


Active transcripts


ID     
Chr     
Name     
NCBI ID     
NCBI Protein ID     
DescendingVariants     
00000237 19 transcript variant 1 NM_001017989.2 NP_001017989.2 186
00000238 19 transcript variant 2 NM_025136.3 NP_079412.1 168


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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