Case#: 40, female

Disease: Glazmann's Thrombasthenia

CasePresentingHPOs: HP:0000790, HP:0000967, HP:0000978, HP:0004406, HP:0000225, HP:0006298, HP:0001892, HP:0002239, HP:0000132

Hematuria, Petechiae, Bruising susceptibility, Spontaneous, recurrent epistaxis, Gingival bleeding, Prolonged bleeding after dental extraction, Abnormal bleeding, Gastrointestinal hemorrhage, Menorrhagia

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

ClinVar: 1330321****

CAID: CA923726221 *

Variant: NM_000212.3:c.756del **

* Predicated different Amino Acid affected by Allele Registry according to this table it is Isoleucine but allele registry shows methionine to cysteine with frameshift

GnomAD: Not found

ExpressionEvidence:Flow Cytometry of platelet integrin: 1.2% B3 expression, 45.2% A2B expression