The TRPS1 gene homepage

General information
Gene symbol TRPS1
Gene name trichorhinophalangeal syndrome I
Chromosome 8
Chromosomal band q23.3
Imprinted Unknown
Genomic reference NG_012383.3
Transcript reference NM_014112.2
Exon/intron information NM_014112.2 exon/intron table
Associated with diseases TRPS1, TRPS3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (3) Giovanna Mantovani, Guiomar Perez de Nanclares, and Francesca Marta Elli
Total number of public variants reported 47
Unique public DNA variants reported 43
Individuals with public variants 28
Hidden variants 9
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 January 25, 2024
Version TRPS1:240125

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_014112.2.
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 http://www.LOVD.nl/TRPS1
HGNC 12340
Entrez Gene 7227
PubMed articles TRPS1
OMIM - Gene 604386
OMIM - Diseases TRPS1 (trichorhinophalangeal syndrome, type I (TRPS-1))
TRPS3 (trichorhinophalangeal syndrome, type III (TRPS-3))
HGMD TRPS1
GeneCards TRPS1
GeneTests TRPS1
Orphanet TRPS1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00021914 8 trichorhinophalangeal syndrome I NM_014112.2 NP_054831.2 47


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 © 2013-2024. 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.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising from any inaccuracies or omissions. Individuals, organizations, and companies that use this database do so on the understanding that no liability whatsoever, either direct or indirect, shall rest upon the data submitter(s), curator(s), or any of their employees or agents for the effects of any product, process, or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.