GT19
Case#: 29 year old, female
Disease: Glazmann's Thrombasthenia
CasePresentingHPOs: HP:0000967, HP:0000978, HP:0000225, HP:0004406, HP:0006298, HP:0001892
PlateletAgreggation: Defective response to ADP, Adrenaline, Collagen, Arachidonic acid. Normal response to Ristocetin.
GenotypingMethod: Genomic DNA was extracted from peripheral blood leukocytes for mutational analysis of the αIIb and β3 genes by DNA sequencing
Allele1:
CAID: CA399802403
ClinVar: 1330318
Variant: NM_000419.5:c.1622T>A
Allele 2:
ClinVar: 2892
CAID: CA115834
Variant: NM_000419.5:c.1750C>T
GnomAD: East Asian Population 0.0002176 (4/18386)
ExpressionEvidence: Flow Cytometry of platelet integrin: .77% B3 expression, .37% A2B expression