LOVD OPA3 homepage

General information
Gene name optic atrophy 3 (autosomal recessive, with chorea and spastic paraplegia)
Gene symbol OPA3
Chromosome Location 19q13.2-q13.3
Database location grenada.lumc.nl
Curator Andreas Laner and Theresa Neuhann
PubMed references View all (unique) PubMed references in the OPA3 database
Date of creation July 07, 2011
Last update October 03, 2013
Version OPA3 131003
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_013332.1
Transcript refseq ID NM_025136.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the OPA3 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 8142
Entrez Gene 80207
OMIM - Gene 606580
OMIM - Disease #1 3-methylglutaconic aciduria, type 3 (MGA-3)
OMIM - Disease #2 optic atrophy, autosomal dominant, type 3 (OPA-3)
UniProtKB (SwissProt/TrEMBL) Q9H6K4
HGMD OPA3
GeneCards OPA3
GeneTests OPA3
External link Orphanet

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