Case3: Male, 40 years old, Indian

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: HP:0000421, HP:0002239, HP:0002248

(Epistaxis, GI bleeding, hematemesis)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: Diagnosis of GT was made on the basis of quantitive determination of receptor count by flow cytometric analysis of GPIIb-IIIa

PlateletAggregation: Diagnosis of GT was made on the basis of impaired platelet aggregation (platelet aggregation was tested against ristocetin, ADP, collagen, epinephrine and arachidonic acid)

CasePreviousTesting: Multiplex PCR by using GPIIb primers and CSGE analysis were performed

Gene: ITGA2B

Variant: NM_000419.3:c.310+1G>A (IVS2(+1)G>A)

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA8603502

gnomAD: MAF in the European (non-Finnish) population is 0.00001771 https://gnomad.broadinstitute.org/variant/17-42463377-C-T