The HPRT1 gene homepage

General information
Gene symbol HPRT1
Gene name hypoxanthine phosphoribosyltransferase 1
Chromosome X
Chromosomal band q26.2-q26.3
Imprinted Unknown
Genomic reference NG_012329.2
Transcript reference NM_000194.3
Associated with diseases LNS
Citation reference(s) -
Curators (1) MyHVP
Total number of public variants reported 4
Unique public DNA variants reported 1
Individuals with public variants 4
Hidden variants -
Date created July 18, 2021
Date last updated September 12, 2021
Version HPRT1:210912

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
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
HGNC 5157
Entrez Gene 3251
PubMed articles HPRT1
OMIM - Gene 308000
OMIM - Diseases LNS (Lesch–Nyhan Syndrome)
HGMD HPRT1
GeneCards HPRT1
GeneTests HPRT1
Orphanet HPRT1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000776 X hypoxanthine phosphoribosyltransferase 1 NM_000194.3 NP_000185.1 4


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 © 2021-2024. 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.