The OAT gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol OAT
Gene name ornithine aminotransferase
Chromosome 10
Chromosomal band q26
Imprinted Unknown
Genomic reference NG_008861.1
Transcript reference NM_000274.3
Exon/intron information NM_000274.3 exon/intron table
Associated with diseases GACR
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 228
Unique public DNA variants reported 95
Individuals with public variants 268
Hidden variants 2
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
Establishment of this gene variant database (LSDB) was performed by Johan den Dunnen, supported by Global Variome.
Date created July 16, 2012
Date last updated December 03, 2022
Version OAT:221203

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000274.3.
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
Homepage URL
HGNC 8091
Entrez Gene 4942
PubMed articles OAT
OMIM - Gene 613349
OMIM - Diseases GACR (OATD)
GeneCards OAT
GeneTests OAT
Orphanet OAT

Active transcripts




NCBI ID     

NCBI Protein ID     

00014982 10 transcript variant 1 NM_000274.3 NP_000265.1 228

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective submitter(s) and curator(s) of the individual records. Individual data entries may indicate which data license applies to that specific record. When no license is listed, no permissions are granted. Any unauthorized use, copying, storage, or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2012-2022. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.