View 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
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 390
Unique public DNA variants reported 378
Individuals with public variants 390
Hidden variants 0
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 03, 2016
Version PKHD1:160703

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
Homepage URL http://www.LOVD.nl/PKHD1
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))
HGMD PKHD1
GeneCards PKHD1
GeneTests 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_619639.3 390


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