Case1: Male, 61 years old

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Figure 4

PlateletAggregation: See Table 2

CasePreviousTesting: Nucleotide sequences of all exons of ITGA2B and ITGB3 were determined on this patient. In total, the primers designed provided amplicons covering all exons and splice sites in both genes and about 50% of the introns. These sequences were compared to those of ITGA2B and ITGB3 in the GenBank database

Gene: ITGB3

Variant: NM_000212.2:c.392G>C (p.Arg131Pro) and NM_000212.2:c.1409dup (p.Asn470Lysfs*2)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA8622954 and CA500651166

gnomAD: For Arg131Pro MAF in the African population is 0.00006152 http://gnomad.broadinstitute.org/variant/17-45361839-G-C