The TTC8 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol TTC8
Gene name tetratricopeptide repeat domain 8
Chromosome 14
Chromosomal band q31.3
Imprinted Unknown
Genomic reference NG_008126.1
Transcript reference NM_144596.2
Exon/intron information NM_144596.2 exon/intron table
Associated with diseases BBS8, ID, RP51
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Dewi Astuti and Timothy Barrett
Total number of public variants reported 171
Unique public DNA variants reported 97
Individuals with public variants 112
Hidden variants 10
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 March 28, 2012
Date last updated May 09, 2022
Version TTC8:220509

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_144596.2.
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
HGNC 20087
Entrez Gene 123016
PubMed articles TTC8
OMIM - Gene 608132
OMIM - Diseases BBS8 (Bardet-Biedl syndrome, type 8 (BBS-8))
RP51 (retinitis pigmentosa, type 51 (RP51))
GeneCards TTC8
GeneTests TTC8
Orphanet TTC8

Active transcripts




NCBI ID     

NCBI Protein ID     

00022015 14 transcript variant 1 NM_144596.2 NP_653197.2 171

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 © 2012-2022. 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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