1 Matching Annotations
- Sep 2024
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heterozygous c.G380A variant in GP1BA (NM_000173.7) (Figure 1B), resulting in a missense substitution of an arginine with a glutamine at position 127
Disease: platelet-type von Willebrand disease (PT-VWD)
Patient: 14 yo, Male
Variant: GP1BA NM_000173.7:c.389G>A p.(Arg127Gln), Heterozygous, Gain-of-Function (GOF)
Located in LRR5 domain of GP1BA
Family: Mother did not refer any bleeding symptoms (variant absent in mother) Father not available for collection of clinical history or platelet function testing
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