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Last update

21/6/2017

Gene: glycoprotein Ib (platelet), beta polypeptide; GP1BB

Gene Symbol: GP1BB
OMIM: 138720
Chromosome location: 22q11.21

Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Bernard-Soulier syndrome, type B || c.143C>A

Phenotype:	Bernard-Soulier syndrome, type B
Dna Change:	c.143C>A
Protein Change:	p.Ser48X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 2
Transcript:	NM_000407.4

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Tunisia	NA	NA	3 patients /3 unrelated families	NA	HadjKacem B et al., 2010HadjKacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF, . The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.. Ann. Hematol.. 2010; 89(1):75-81

References

HadjKacem B, Elleuch H, Trigui R, Gargouri J, Gargouri AF, The same genetic defect in three Tunisian families with Bernard Soulier syndrome: a probable founder Stop mutation in GPIbβ.Ann. Hematol.. 2010; 89(1):75-81

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: glycoprotein Ib (platelet), beta polypeptide; GP1BB

References