Bernard-Soulier syndrome

OMIM:231200
Mode of inheritance:Autosomal recessive
Disease classification:Disorders involving the immune mechanism

Mutations

Gene Symbol	GP1BB
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