The NPHP4 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol NPHP4
Gene name nephronophthisis 4
Chromosome 1
Chromosomal band p36
Imprinted Unknown
Genomic reference NG_011724.2
Transcript reference NM_015102.4
Associated with diseases NPHP-4, SLSN-4
Citation reference(s) -
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 279
Unique public DNA variants reported 185
Individuals with public variants 29
Hidden variants 25
Download all this gene's data Download all data
Notes This database is one of the "Eye disease" gene variant databases.
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 29, 2010
Date last updated September 17, 2021
Version NPHP4:210917

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 https://www.LOVD.nl/NPHP4
HGNC 19104
Entrez Gene 261734
PubMed articles NPHP4
OMIM - Gene 607215
OMIM - Diseases NPHP-4 (nephronophthisis, type 4 (NPHP-4))
SLSN-4 (Senior-Loken syndrome, type 4 (SLSN-4))
HGMD NPHP4
GeneCards NPHP4
GeneTests NPHP4
Orphanet NPHP4


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00025432 1 nephrocystin 4, transcript variant 1 NM_015102.4 NP_055917.1 279


Copyright & disclaimer
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