GP1BB

Gene name: glycoprotein Ib (platelet), beta polypeptide
OMIM ID: 138720
Chromosome location: 22q11.21

Mutations

Disease/Phenotype	Bernard-Soulier syndrome
DNA Change	insG at Ala131 codon
A.A. Change	Frameshift
Exon/Intron	exon 2
Mutation Type	insertion
Reference	Strassel C, David T, Eckly A, Baas MJ, Moog S, Ravanat C, Trzeciak MC, Vinciguerra C, Cazenave JP, Gachet C, Lanza F.Synthesis of GPIb beta with novel transmembrane and cytoplasmic sequences in a Bernard-Soulier patient resulting in GPIb-defective signaling in CHO cells. J Thromb Haemost. 2006 Jan;4(1):217-28.

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  Variant not named according to HGVS recommendations