Disease A B C D E F G H I J K L M N O P Q R S T U V W X Y Z [0-9]
Gene A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

GP1BB

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

Mutations

Disease/PhenotypeBernard-Soulier syndrome
DNA ChangeinsG at Ala131 codon
A.A. ChangeFrameshift
Exon/Intronexon 2
Mutation Typeinsertion
ReferenceStrassel 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.


  Variant not named according to HGVS recommendations