The 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 PKD, PKD4
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 671
Unique public DNA variants reported 526
Individuals with public variants 683
Hidden variants 29
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 December 13, 2021
Version PKHD1:211213

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 http://www.LOVD.nl/PKHD1
HGNC 9016
Entrez Gene 5314
PubMed articles PKHD1
OMIM - Gene 606702
OMIM - Diseases PKD4 (kidney, polycystic, disease, type 4, with/without hepatic disease (PKD4))
HGMD PKHD1
GeneCards PKHD1
GeneTests PKHD1
Orphanet PKHD1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00000115 6 polycystic kidney and hepatic disease 1 (autosomal recessive), transcript variant 1 NM_138694.3 NP_619639.3 671


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