Case#: Patient ID 9, Female, Korean

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0001892, HP:0000978

Abnormal Bleeding, Bruising susceptibility

PlateletAgreggation: Decreased response to ADP, COL, EPI, normal response to RIS

GenotypingMethod: Targeted Exome sequencing followed by Whole exome sequencing performed.

Allele 1:

ClinVar:Not Found

CAID: CA2573131754

Variant: NM_000419.5:c.2390del

GnomAD: Not Found

Allele 2

ClinVar: 225393

CAID:CA290947544

Variant: NM_000419.5:c.2333A>C

GnomAD:East Asian at rate of 0.0001087 (2/18394)

ExpressionEvidence: Decreased CD41 expression by flow cytometry