Variant: rs121918036 

    present in Gene: GP9
    present in Chromosome: 3
    Position on Chromosome: 129061849
    Alleles of this Variant: A/G

rs121918036 in GP9 gene and Bernard-Soulier Syndrome PMID 8481514 1993 Double heterozygosity for mutations in the platelet glycoprotein IX gene in three siblings with Bernard-Soulier syndrome.

PMID 9886312 1998 A new variant of Bernard-Soulier syndrome characterized by dysfunctional glycoprotein (GP) Ib and severely reduced amounts of GPIX and GPV.

PMID 11167791 2001 Identification of a new mutation in platelet glycoprotein IX (GPIX) in a patient with Bernard-Soulier syndrome.

PMID 11758225 2001 [A novel point mutation in the transmembrane domain of platelet glycoprotein IX gene identified in a Bernard-Soulier syndrome patient].

PMID 12100158 2002 A Leu7Pro mutation in the signal peptide of platelet glycoprotein (GP)IX in a case of Bernard-Soulier syndrome abolishes surface expression of the GPIb-V-IX complex.

PMID 10583255 1999 Cys97-->Tyr mutation in the glycoprotein IX gene associated with Bernard-Soulier syndrome.

PMID 9163595 1997 A phenylalanine-55 to serine amino-acid substitution in the human glycoprotein IX leucine-rich repeat is associated with Bernard-Soulier syndrome.