Case4: Male, 22 years old, Tamil Nadu India

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0006298, HP:0000421, HP:0002239, HP:0000225

(Prolonged bleeding after tooth extraction, epistaxis, GI bleeding, gingival bleeding)

CaseHPOFreeText: Bleeding during tooth extraction

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: See Table 1 for values

PlateletAggregation: See Table 1 for values

CasePreviousTesting: PCR amplification of ITAG2B and ITGB3

Gene: ITGA2B

Variant: NM_000419.3:c.1162G>A (p.Gly388Ser)

LegacyVariant: (p.Gly357Ser)

ClinVar: N/A

CAiD: CA8603212

gnomAD: N/A