The VHL gene homepage

General information
Gene symbol VHL
Gene name von Hippel-Lindau tumor suppressor
Chromosome 3
Chromosomal band p25.3
Imprinted Unknown
Genomic reference NG_008212.3
Transcript reference NM_000551.3, NM_000551.4
Associated with diseases PCZ, VHLS
Citation reference(s) -
Curators (2) Florian Bayersdorfer and Sabine Heber
Total number of public variants reported 1
Unique public DNA variants reported 1
Individuals with public variants 0
Hidden variants -
Date created June 03, 2024
Date last updated June 03, 2024
Version VHL:240603

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 HGNC:12687
Entrez Gene 7428
PubMed articles VHL
OMIM - Gene 608537
OMIM - Diseases PCZ (PHEOCHROMOCYTOMA)
VHLS (VON HIPPEL-LINDAU SYNDROME)
HGMD VHL
GeneCards VHL
GeneTests VHL
Orphanet VHL


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000117 3 transcript variant 1 (expired, new version available) NM_000551.4 NP_000542.1 1
00000123 3 transcript variant 1 NM_000551.3 NP_000542.1 1


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 © 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.