Case3: Male, 6 years old, Andra Pradesh India

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0031364, HP:0000225

(Ecchymosis, 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.952T>A (p.Ser318Leu)

LegacyVariant: (p.Ser287Leu)

ClinVar: N/A

CAiD: CA399804792

gnomAD: N/A