Case: (Patient C), Male, age, and ethnicity not specified

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: 2 siblings (compound heterozygotes for the p.Cys674Arg and p.Ile374Thr mutation)

ParentalGenotype: Mother: (p.Ile374Thr) and Father: (p.Cys674Arg)

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: By immunoblot analysis, it was found that the platelets of the patient and his 2 siblings contained both αIIb and β3, but at reduced levels compared with a healthy control (Figure 1B)

CasePreviousTesting: Direct sequence analysis of the of the genes encoding αIIb were performed on DNA isolated from leukocytes obtained from Patient C and family members.

Gene: ITGA2B

Variant: NM_000419.3:c.1214T>C (p.Ile405Thr) and NM_000419.3:c.2113T>C (p.Cys705Arg)

LegacyVariant: (p.Ile374Thr) and (p.Cys674Arg)

ClinVar: N/A

CAiD: CA290950815 and CA8602816

gnomAD: MAF in the European (non-Finnish) population is 0.000008792 https://gnomad.broadinstitute.org/variant/17-42455140-A-G