GP1BA gene homepage

General information
Gene symbol GP1BA
Gene name glycoprotein Ib (platelet), alpha polypeptide
Chromosome 17
Chromosomal band pter-p12
Imprinted Unknown
Genomic reference NG_008767.2
Transcript reference NM_000173.5
Exon/intron information NM_000173.5 exon/intron table
Associated with diseases BSS, BSSA-2, VWDP, neuropathy, optic, ischemic, nonarteritic anterior, susceptibility to
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (2) Maha Othman and Anna Savoia
Total number of public variants reported 154
Unique public DNA variants reported 78
Individuals with public variants 366
Hidden variants 7
Download all this gene's data Download all data
Notes This database is one of the EAHAD Coagulation Factor Variant Databases.
Establishment of this gene variant database (LSDB) was supported by the Leiden University Medical Center (LUMC), Leiden, Nederland.
Date created April 29, 2010
Date last updated August 06, 2020
Version GP1BA:200806

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_000173.5.
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
Homepage URL
HGNC 4439
Entrez Gene 2811
PubMed articles GP1BA
OMIM - Gene 606672
OMIM - Diseases BSS (syndrome, Bernard-Soulier (BSS))
BSSA-2 (Bernard-Soulier syndrome, type A2, autosomal dominant (BSSA-2))
VWDP (von Willebrand disease, pseudo (VWDP))
neuropathy, optic, ischemic, nonarteritic anterior, susceptibility to
GeneCards GP1BA
GeneTests GP1BA

Active transcripts




NCBI ID     

NCBI Protein ID     

00008735 17 glycoprotein Ib (platelet), alpha polypeptide NM_000173.5 NP_000164.5 154

Copyright & disclaimer
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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.