NPHP1 gene homepage

This database is one of the "Eye disease" gene variant databases.
General information
Gene symbol NPHP1
Gene name nephronophthisis 1 (juvenile)
Chromosome 2
Chromosomal band q13
Imprinted Unknown
Genomic reference NG_008287.1
Transcript reference NM_000272.3
Associated with diseases ID, JBTS-4, NPHP, SLSN
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) LOVD-team, but with Curator vacancy
Total number of public variants reported 84
Unique public DNA variants reported 62
Individuals with public variants 1
Hidden variants 4
Notes This database is one of the "Eye disease" gene variant databases.
Date created July 16, 2012
Date last updated October 03, 2013
Version NPHP1:131003

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
HGNC 7905
Entrez Gene 4867
PubMed articles NPHP1
OMIM - Gene 607100
OMIM - Diseases JBTS-4 (Joubert syndrome, type 4 (JBTS-4))
NPHP (nephronophthisis)
SLSN (Senior-Loken syndrome (SLSN))

Active transcripts




NCBI ID     

NCBI Protein ID     

00014731 2 transcript variant 1 NM_000272.3 NP_000263.2 84

Copyright & disclaimer
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