Case#: Patient ID 8, Female, Korean

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000967, HP:0000978, HP:0003010

Bruising susceptibility, Petechiae, Prolonged bleeding time

PlateletAgreggation: Impaired response to ADP and Epi.

GenotypingMethod: Targeted Exome sequencing followed by Whole exome sequencing performed. Sanger Sequencing used to confirm pathogenic variants

Allele 1:

ClinVar:Not Found

CAID: CA399804316

Variant: NM_000419.5:c.1184G>T

GnomAD: Not Found

Allele 2

ClinVar: 2892

CAID:CA115834

Variant: NM_000419.5:c.1750C>T

GnomAD: East Asian population at rate of 0.0002176 (4/18386)

ExpressionEvidence: Decreased CD41 expression by flow cytometry