Hypothesis

Mother L

Case1: Mother L

DiseaseAssertion: Glanzmann thrombasthenia

FamilyInfo: N/A

ParentalGenotype: N/A

CasePresentingHPOs: N/A

CaseHPOFreeText: N/A

CaseNotHPOs: N/A

CaseNotHPOsFreeText: N/A

ProteinExpression: Assessment of surface PTL expression of GPIIIa-IIb was performed

PlateletAggregation: N/A

CasePreviousTesting: DNA sequence analysis was performed -- direct sequence analysis of the PCR products corresponding to exon 10 was performed here

Gene: ITGA2B

Variant: NM_000212.2:c.1447T>C

LegacyVariant: N/A

ClinVar: N/A

CAiD: CA400029321

gnomAD: N/A

CaseInfo Individual Gene:ITGB3 InheritancePattern:NoInheritanceAssertion DiseaseEntity:GlanzmannThrombasthenia Mutation:Missense Zygosity:Heterozygous CAiD:CA400029321 PreviousTesting:Partial ProteinExpression:MinimalInformation PlateletAggregation:NotReported inferred_gene_hgnc:6156 inferred_gene_source:CAID ClinGen ITGA2B/ITGB3

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