The HARS gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol HARS
Gene name histidyl-tRNA synthetase
Chromosome 5
Chromosomal band q31.3
Imprinted Unknown
Genomic reference NG_032158.1
Transcript reference NM_002109.3
Exon/intron information NM_002109.3 exon/intron table
Associated with diseases USH-3, USH-3B
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Johan den Dunnen
Total number of public variants reported 18
Unique public DNA variants reported 14
Individuals with public variants 387
Hidden variants 1
Notes This database is one of the "Eye disease" gene variant databases.
Date created June 29, 2012
Date last updated May 10, 2021
Version HARS:210510

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_002109.3.
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 http://www.LOVD.nl/HARS
HGNC 4816
Entrez Gene 3035
PubMed articles HARS
OMIM - Gene 142810
OMIM - Diseases USH-3B (Usher syndrome, type 3B (USH-3B))
HGMD HARS
GeneCards HARS
GeneTests HARS
Orphanet HARS


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000272 5 histidyl-tRNA synthetase NM_002109.3 NP_002100.2 18


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 © 2012-2021. 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.

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