ABHD12 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol ABHD12
Gene name abhydrolase domain containing 12
Chromosome 20
Chromosomal band p11.21
Imprinted Unknown
Genomic reference NG_028119.1
Transcript reference NM_001042472.2
Exon/intron information NM_001042472.2 exon/intron table
Associated with diseases PHARC
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Justine Lerat
Total number of public variants reported 48
Unique public DNA variants reported 20
Individuals with public variants 34
Hidden variants 24
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 supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created February 13, 2013
Date last updated January 26, 2018
Version ABHD12:180126

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_001042472.2.
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 https://www.LOVD.nl/ABHD12
HGNC 15868
Entrez Gene 26090
PubMed articles ABHD12
OMIM - Gene 613599
OMIM - Diseases PHARC (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, cataract (PHARC))
HGMD ABHD12
GeneCards ABHD12
GeneTests ABHD12


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00023827 20 transcript variant 1 NM_001042472.2 NP_001035937.1 48


Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2013-2018. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.