Case24: (Proband Cab-GT24), Female, age not specified, North African

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

ProteinExpression: Flow cytometry showed <5% GPIIb and 10% GPIIIa

Platelet Aggregation: N/A

CasePreviousTesting: Promoter and exon sequences of aIIb and b3 genes were amplified and directly sequence

Gene: ITGB3

Variant: NM_000212.2:c.740G>A (p.Gly247Asp) and NM_000212.2:c.836A>T (p.Lys279Met)

LegacyVariant: N/A

ClinVar: 13569 and 13568

CAiD: CA123256 and CA123254

gnomAD MAF in the African population is 0.00006152 https://gnomad.broadinstitute.org/variant/17-45364494-A-T