Variant: rs121918035

present in Gene: CD36 present in Chromosome: 7 Position on Chromosome: 80673392 Alleles of this Variant: A/C;G

rs121918035 in CD36 gene and Platelet Glycoprotein IV Deficiency PMID 7533783 1995 Molecular basis of CD36 deficiency. Evidence that a 478C-->T substitution (proline90-->serine) in CD36 cDNA accounts for CD36 deficiency.

PMID 11950861 2002 Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency.