PKHD1 gene homepage

General information
Gene symbol PKHD1
Gene name polycystic kidney and hepatic disease 1 (autosomal recessive)
Chromosome 6
Chromosomal band p21.2-p12
Imprinted Unknown
Genomic reference NG_008753.1
Transcript reference NM_138694.3
Exon/intron information NM_138694.3 exon/intron table
Associated with diseases ARPKD
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 556
Unique public DNA variants reported 477
Individuals with public variants 393
Hidden variants 8
Download all this gene's data Download all data
Notes Establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement No 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated July 05, 2019
Version PKHD1:190705

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_138694.3.
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
External URL Orphanet
HGNC 9016
Entrez Gene 5314
PubMed articles PKHD1
OMIM - Gene 606702
OMIM - Diseases ARPKD (kidney, polycystic, disease, autosomal recessive (ARPKD, infantile type))
GeneCards PKHD1
GeneTests PKHD1

Active transcripts




NCBI ID     

NCBI Protein ID     

00000115 6 polycystic kidney and hepatic disease 1 (autosomal recessive), transcript variant 1 NM_138694.3 NP_619639.3 556

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised 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 © 2011-2019. 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 out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the 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.