Factor XI Variant Database

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

c.316C>T

p.Gln106* (Legacy AA No. 88)

Variant Type:

Point

Domain:

Linker

Codon Change:

C>T

Variant Effect:

Nonsense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251302

Allele Frequency *:

0.000004

Quelin et al 2004

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
23	64	F	Nantes	60	51	Heterozygote		Mild	No excessive bleeding after appendicectomy, cholecysteco my or delivery.	Quelin et al 2004
24	41	M	Nantes	<1	0	Homozygote		Severe	No excessive bleeding after ligamentoplasty	Quelin et al 2004
25	36	F	Nantes	46	41	Heterozygote		Mild	No excessive bleeding after delivery x 3 or after appendicectomy	Quelin et al 2004
26	46	F	Nantes	<1	0	Homozygote		Severe	Patient treated with FXI concentrate before cholecystectomy and showed no excessive bleeding. Also given fresh frozen plasma before delive ry and showed no bleeding. Developed and inhibitor to FXI after exposure to FXI concentrate.	Quelin et al 2004
28	9	M	Nantes	<1	1	Compound heterozygote	c.192_193insG	Severe		Quelin et al 2004

Structural analysis cannot be performed on this (Point | Nonsense) variant.

Factor XI Variant Database

Factor XI Gene (F11)