The patient was a 35‐year‐old female
Case1: Female, 35 years old, Japanese
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: Pedigree found in Fig 4
ParentalGenotype: Mother: heterozygote for (p.Ile330Asn) and Father: heterozygote for (p.His306Pro)
CasePresentingHPOs: N/A
CaseHPOFreeText: Profuse bleeding at times
CaseNotHPOs: N/A
CaseNotHPOFreeText: N/A
ProteinExpression: The surface expression of αIIbβ3 complex on the patient's platelets was not observed in the flow cytometric analysis used to detect the αIIbβ3 complex (Fig. 1A).
PlateletAggregation: No aggregation of patient's platelets in response to ADP and collagen but normal aggregation occurred in response to ristocetin
CasePreviousTesting: Nucleotide sequences of beta3 cDNA and beta3 genomic DNA were analyzed by the dye terminator cycle sequencing method, in addition the nucleotide sequences of alphaIIbeta cDNA were anlso analyzed based on the published sequence of alphaIIbeta
Gene: ITGB3
Variant: NM_000212.2:c.989T>A (p.Ile330Asn) and NM_000212.2:c.917A>C (p.His306Pro)
LegacyVariant: (p.Ile304Asn) and (p.His280Pro)
ClinVar: N/A
CAiD: CA400025722 and CA291224999
gnomAD: MAF in the East Asian population is 0.00005437 https://gnomad.broadinstitute.org/variant/17-45364575-A-C