Case: (Patient M) Gender, age, ethnicity are not specified

DiseaseAssertion: Glanzmann thrombasthenia (diagnosed at 1 year old)

FamilyInfo: N/A

ParentalGenotype: Mother: (p.Val298Phe) and Father: (p.Tyr380Ter)

CasePresentingHPOs: (Went to Reference #17 to see what lab findings/phenotypes were reported for this patient; however, access not available to this article)

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOFreeText: N/A

ProteinExpression: By immunoblot analysis, both αIIb and β3 subunits were detected in the patient's platelet lysates, but at reduced levels compared to a healthy control and samples from both parents (Figure1A)

CasePreviousTesting: Direct sequence analysis of the of the genes encoding αIIb were performed on DNA isolated from leukocytes obtained from Patient M and family members

Gene: ITGA2B

Variant: NM_000419.3:c.985G>T (p.Val329Phe) and NM_000419.3:c.1232dup (Tyr411Ter)

LegacyVariant: (p.Val298Phe) and (p.Tyr380Ter)

ClinVar: N/A

CAiD: CA399804719 and CA915940593

gnomAD: MAF in the South Asian population is 0.0001312 https://gnomad.broadinstitute.org/variant/17-42458407-G-A