TONSL gene homepage

General information
Gene symbol TONSL
Gene name tonsoku-like, DNA repair protein
Chromosome 8
Chromosomal band q24.3
Imprinted Unknown
Genomic reference NC_000008.10
Transcript reference NM_013432.4
Exon/intron information NM_013432.4 exon/intron table
Associated with diseases SPONASTRIME
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 54
Unique public DNA variants reported 40
Individuals with public variants 28
Hidden variants 0
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created May 03, 2013
Date last updated February 16, 2019
Version TONSL:190216

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_013432.4.
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/TONSL
HGNC 7801
Entrez Gene 4796
PubMed articles TONSL
OMIM - Gene 604546
OMIM - Diseases SPONASTRIME (dysplasia, SPONASTRIME type)
HGMD TONSL
GeneCards TONSL
GeneTests TONSL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021634 8 tonsoku-like, DNA repair protein NM_013432.4 NP_038460.4 54


Copyright & disclaimer
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