LOVD NPHP1 homepage

General information
Gene name nephronophthisis 1 (juvenile)
Gene symbol NPHP1
Chromosome Location 2q13
Database location grenada.lumc.nl
Curator LOVD-team, but with Curator vacancy
PubMed references View all (unique) PubMed references in the NPHP1 database
Date of creation July 16, 2012
Last update October 03, 2013
Version NPHP1 131003
Add sequence variant Submit a sequence variant
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Reference sequence file Genomic reference sequence for describing sequence variants
Genomic refseq ID NG_008287.1
Transcript refseq ID NM_000272.3
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 0
Total number of individuals with variant(s) 0
Total number of variants reported 0
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Graphical displays and utilities
Summary tables Summary of all sequence variants in the NPHP1 database, sorted by type of variant (with graphical displays and statistics)
Reading-frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes
UCSC Genome Browser Show variants in the UCSC Genome Browser (compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 7905
Entrez Gene 4867
OMIM - Gene 607100
OMIM - Disease Joubert syndrome 4 (JBTS4)
UniProtKB (SwissProt/TrEMBL) O15259
HGMD NPHP1
GeneCards NPHP1
GeneTests NPHP1