HPS1 homepage - CCHMC Molecular Genetics Laboratory Mutation Database

General information
Gene name	Hermansky-Pudlak syndrome 1
Gene symbol	HPS1
Chromosome Location	10q23.1-q23.3
Database location	https://research.cchmc.org/LOVD2/
Curator	Ammar Husami
PubMed references	View all (unique) PubMed references in the HPS1 database
Date of creation	April 30, 2014
Last update	April 30, 2014
Version	HPS1 140430
Add sequence variant	Submit a sequence variant
First time submitters	Register here
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 HPS1 database, sorted by type of variant (with graphical displays and statistics)
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

CCHMC Molecular Genetics Laboratory Mutation Database