The GP1BB gene homepage

General information
Gene symbol GP1BB
Gene name glycoprotein Ib (platelet), beta polypeptide
Chromosome 22
Chromosomal band q11.21-q11.23
Imprinted Unknown
Genomic reference NG_007974.1
Transcript reference NM_000407.4
Exon/intron information NM_000407.4 exon/intron table
Associated with diseases BSS
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Anna Savoia
Total number of public variants reported 86
Unique public DNA variants reported 51
Individuals with public variants 73
Hidden variants 1
Date created May 03, 2013
Date last updated March 08, 2022
Version GP1BB:220308

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_000407.4.
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
External URL Bernard-SoulierSyndrome database
HGNC 4440
Entrez Gene 2812
PubMed articles GP1BB
OMIM - Gene 138720
OMIM - Diseases BSS (Bernard-Soulier syndrome)
GeneCards GP1BB
GeneTests GP1BB
Orphanet GP1BB

Active transcripts




NCBI ID     

NCBI Protein ID     

00008736 22 glycoprotein Ib (platelet), beta polypeptide NM_000407.4 NP_000398.1 86

Copyright & disclaimer
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