View TIA1 gene homepage

General information
Gene symbol TIA1
Gene name TIA1 cytotoxic granule-associated RNA binding protein
Chromosome 2
Chromosomal band p13
Imprinted Unknown
Genomic reference NG_029967.1
Transcript reference NM_022173.2
Exon/intron information NM_022173.2
Associated with diseases WDM
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 2
Unique public DNA variants reported 1
Individuals with public variants 47
Hidden variants 0
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created January 07, 2013
Date last updated October 24, 2015
Version TIA1:151024

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
Homepage URL http://www.LOVD.nl/TIA1
HGNC 11802
Entrez Gene 7072
PubMed articles TIA1
OMIM - Gene 603518
OMIM - Diseases WDM (myopathy, distal, Welander (WDM))
HGMD TIA1
GeneCards TIA1
GeneTests TIA1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001784 2 transcript variant 2 NM_022173.2 NP_071505.2 2


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