Factor XI Variant Database

Terms with a '*' next to them are explained on the Help Page .

c.365G>A

p.Gly122Asp (Legacy AA No. 104)

Variant Type:

Point

Domain:

Apple 2

Codon Change:

G>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282668

Allele Frequency *:

0.000007

Mitchell et al 2003

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
8				35		Heterozygote		Mild		Mitchell et al 2003
12				42		Heterozygote		Not Reported	Suffered from epistaxis	Alhaq et al 2000
117				33		Heterozygote		Mild		Mitchell et al 2003
224			UK Population	58	61	Heterozygote		Not Reported		Mitchell et al 2006
225			UK Population	44		Heterozygote		Not Reported		Mitchell et al 2006
404	42	M		2		Compound heterozygote	c.325G>A (p.Ala109Thr)	Not Reported	APTT: 106 s	Duncan et al 2008
440				45		Heterozygote		Not Reported		Saunders et al 2009

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Factor XI Variant Database

Factor XI Gene (F11)