LOVD GP1BA homepage

General information
Gene name Glycoprotein Ib (platelet), alpha polypeptide
Gene symbol GP1BA
Chromosome Location 17pter-p12
Database location grenada.lumc.nl
Curator Maha Othman
PubMed references View all (unique) PubMed references in the GP1BA database
Date of creation April 29, 2010
Last update January 20, 2013
Version GP1BA130120
Add sequence variant Submit a sequence variant
First time submitters Register here
Reference sequence file coding DNA reference sequence for describing sequence variants
Genomic refseq ID NG_008767.2
Transcript refseq ID NM_000173.5
Exon/intron information Exon/intron information table
Total number of unique DNA variants reported 10
Total number of individuals with variant(s) 219
Total number of variants reported 392
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NOTE pt-vwd.org
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 GP1BA 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

Sequence variant tables
Unique sequence variants Listing of all unique sequence variants in the GP1BA database, without patient data
Complete sequence variant listing Listing of all sequence variants in the GP1BA database
Variants with no known pathogenicity Listing of all GP1BA variants reported to have no noticeable phenotypic effect (note: excluding variants of unknown effect)

Search the database
By type of variant View all sequence variants of a certain type
Simple search Query the database by selecting the most important variables (exon number, type of variant, disease phenotype)
Advanced search Query the database by selecting a combination of variables
Based on patient origin View all variants based on your patient origin search terms

Links to other resources
Homepage http://www.LOVD.nl/GP1BA
HGNC 4439
Entrez Gene 2811
OMIM - Gene 606672
OMIM - Disease #1 Bernard-Soulier syndrome, recessive, type A1 (BSS-1A)
OMIM - Disease #2 Bernard-Soulier syndrome, dominant, type A2 (BSS-A2)
OMIM - Disease #3 von Willebrand disease, pseudo (PT-VWD)
OMIM - Disease #4 nonarteritic anterior ischemic optic neuropathy, susceptibility to
UniProtKB (SwissProt/TrEMBL) P07359
GeneCards GP1BA
GeneTests GP1BA
External link Platelet type von Willebrand disease (PT-VWD) website

Copyright & disclaimer
The contents of this LOVD database are the intellectual property of the respective curator(s). Any unauthorised use, copying, storage or distribution of this material without written permission from the curator(s) will lead to copyright infringement with possible ensuing litigation. Copyright © 2018. All Rights Reserved. For further details, refer to Directive 96/9/EC of the European Parliament and the Council of March 11 (1996) on the legal protection of databases.

We have used all reasonable efforts to ensure that the information displayed on these pages and contained in the databases is of high quality. We make no warranty, express or implied, as to its accuracy or that the information is fit for a particular purpose, and will not be held responsible for any consequences arising out of any inaccuracies or omissions. Individuals, organisations and companies which use this database do so on the understanding that no liability whatsoever either direct or indirect shall rest upon the curator(s) or any of their employees or agents for the effects of any product, process or method that may be produced or adopted by any part, notwithstanding that the formulation of such product, process or method may be based upon information here provided.