LOVD NPC1 homepage

General information
Gene name Niemann-Pick disease, type C1
Gene symbol NPC1
Chromosome Location 18q11-q12
Database location grenada.lumc.nl
Curator Kirsten McKay
PubMed references View all (unique) PubMed references in the NPC1 database
Date of creation April 29, 2010
Last update January 05, 2013
Version NPC1 130105
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Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_012795.1
Transcript refseq ID NM_000271.4
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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NOTE The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nÂș 200754 - the GEN2PHEN project.

Graphical displays and utilities
Summary tables Summary of all sequence variants in the NPC1 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
Homepage http://www.LOVD.nl/NPC1
HGNC 7897
Entrez Gene 4864
OMIM - Gene 607623
OMIM - Disease #1 Niemann-Pick disease, type C1 (NP-C1)
OMIM - Disease #2 Niemann-Pick disease, type D (NP-D)
UniProtKB (SwissProt/TrEMBL) O15118
HGMD NPC1
GeneCards NPC1
GeneTests NPC1
External link Orphanet

Copyright & disclaimer
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