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 45
Unique public DNA variants reported 41
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 11, 2023
Version TRPS1:230111

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
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))
GeneCards TRPS1
GeneTests TRPS1
Orphanet TRPS1

Active transcripts




NCBI ID     

NCBI Protein ID     

00021914 8 trichorhinophalangeal syndrome I NM_014112.2 NP_054831.2 45

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