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 152
Unique public DNA variants reported 78
Individuals with public variants 336
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 December 21, 2018
Version GP1BA:181221

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 https://www.LOVD.nl/GP1BA
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
HGMD GP1BA
GeneCards GP1BA
GeneTests GP1BA


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00008735 17 glycoprotein Ib (platelet), alpha polypeptide NM_000173.5 NP_000164.5 152


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