Variant Comments & Reference:

Gly562Ser resides on a surface exposed loop within the SP domain and it is not clear whether this is the causative mutation because the patients mother has the mutation but has normal FXI:C levels. Saunders et al 2009

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
496				62		Heterozygote		Not Reported		Saunders et al 2009
497				105		Heterozygote		Not Reported	Mother of patient 496	Saunders et al 2009

Structural Interpretation:

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