Variant: rs121908065 

    present in Gene: CHRNE;GP1BA
    present in Chromosome: 17
    Position on Chromosome: 4933119
    Alleles of this Variant: C/T

rs121908065 in CHRNE;GP1BA gene and BERNARD-SOULIER SYNDROME, TYPE A2, AUTOSOMAL DOMINANT PMID 11222377 2001 Autosomal dominant macrothrombocytopenia in Italy is most frequently a type of heterozygous Bernard-Soulier syndrome.

rs121908065 in CHRNE;GP1BA gene and Bernard-Soulier Syndrome PMID 7873390 1995 A three-base deletion removing a leucine residue in a leucine-rich repeat of platelet glycoprotein Ib alpha associated with a variant of Bernard-Soulier syndrome (Nancy I).

PMID 10089893 1999 Molecular characterization of two mutations in platelet glycoprotein (GP) Ib alpha in two Finnish Bernard-Soulier syndrome families.

PMID 7819107 1994 Cys209 Ser mutation in the platelet membrane glycoprotein Ib alpha gene is associated with Bernard-Soulier syndrome.

PMID 9639514 1998 Naturally occurring mutations in glycoprotein Ibalpha that result in defective ligand binding and synthesis of a truncated protein.

PMID 7690774 1993 Point mutation in a leucine-rich repeat of platelet glycoprotein Ib alpha resulting in the Bernard-Soulier syndrome.

PMID 1730088 1992 Mutation of leucine-57 to phenylalanine in a platelet glycoprotein Ib alpha leucine tandem repeat occurring in patients with an autosomal dominant variant of Bernard-Soulier disease.