The TCTN1 gene homepage

General information
Gene symbol TCTN1
Gene name tectonic family member 1
Chromosome 12
Chromosomal band q24.11
Imprinted Unknown
Genomic reference NG_030381.1
Transcript reference NM_024549.5
Exon/intron information NM_024549.5 exon/intron table
Associated with diseases JBTS-1, JBTS-13
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 42
Unique public DNA variants reported 33
Individuals with public variants 255
Hidden variants 4
Download all this gene's data Download all data
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.
Date created May 16, 2012
Date last updated September 17, 2021
Version TCTN1:210917

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_024549.5.
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/TCTN1
HGNC 26113
Entrez Gene 79600
PubMed articles TCTN1
OMIM - Gene 609863
OMIM - Diseases JBTS-1 (Joubert syndrome, type 1 (JBTS-1))
JBTS-13 (Joubert syndrome, type 13 (JBTS-13))
HGMD TCTN1
GeneCards TCTN1
GeneTests TCTN1
Orphanet TCTN1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000203 12 transcript variant 3 NM_024549.5 NP_078825.2 42


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