M/20
Case9: Male, 20 years old, Tamil Nadu India
DiseaseAssertion: Glanzmann thrombasthenia
FamilyInfo: N/A
ParentalGenotype: N/A
CasePresentingHPOs: HP:0000421, HP:0031364, HP:0000225, HP:0006298
(Epistaxis, ecchymosis, gingival bleeding, prolonged bleeding after dental extraction)
CaseHPOFreeText: N/A
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.2489T>G (p.Leu830Arg)
LegacyVariant: (p.Leu799Arg)
ClinVar: N/A
CAiD: CA8602667
gnomAD: MAF in the South Asian population is 0.00003270 https://gnomad.broadinstitute.org/variant/17-42453313-A-C