NPHP1 homepage - Eye diseases - LOVD - Leiden Open Variation Database

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	July 16, 2012
Version	NPHP1 120716
Add sequence variant	Submit a sequence variant
First time submitters	Register here
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

Eye diseases - LOVD