Variant Comments & Reference:

This mutation represents a structurally significant change as it abolishes a Cys46-Cys76 disulphide bridge that is essential for the folding of the first apple domain. Zivelin et al 2002, Hill et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
165	15	F		24	35	Heterozygote		Mild	Menorrhagia	Hill et al 2005
166	10	F		31	41	Heterozygote		Mild	Easy bruising, epistaxis, bleeding gums	Hill et al 2005
167	45	M		26		Heterozygote		Mild	Bleeding postdental extraction	Hill et al 2005
617	32	F	Chinese	1		Compound heterozygote	c.738G>A (p.Trp246*)	Not Reported	Easy bruising and menorrhagia	Shao et al 2016

Structural Interpretation:

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