Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.841C>T

p.Gln281* (Legacy AA No. 263)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

C>T

Variant Effect:

Nonsense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

282772

Allele Frequency *:

0.000081

Variant Comments & Reference:

Saunders et al 2005, Shao et al 2016, Asselta et al 2017, Zhang et al 2020

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
62	17	F	Chinese	45		Heterozygote		Mild	No history of abnormal bleeding.	Au et al 2003
64	56	F	Chinese	1		Compound heterozygote	c.1107C>A (p.Tyr369*)	Severe	Patient initially seen with prolonged bleeding after tooth extraction but there was no previous history of menorrhagia or abnormal bleeding.	Au et al 2003
65	42	F	Japanese	<1	Undetectable	Homozygote		Severe	No history of excessive bleeding and patient had given birth without bleeding complications.	Sato et al 2000
115	20	F	Chinese	49		Heterozygote		Mild		Au et al 2003
119		F	Japanese	55		Heterozygote		Mild		Sato et al 2000
120		M	Japanese	40		Heterozygote		Mild		Sato et al 2000
121		F	Japanese	61		Heterozygote		Mild		Sato et al 2000
122		M	Japanese	<1		Homozygote		Severe		Sato et al 2000
123		M	Japanese	40		Heterozygote		Mild		Sato et al 2000
150	29	M	Japanese	<1	<1	Compound heterozygote		Severe	Spontaneous bleeding and/or heavy bleeding	Kawaguchi et al 2000
399	25	F	Chinese	260	3	Compound heterozygote		Not Reported		Wang et al 2009
615	30	F		1	<1	Homozygote		Not Reported	Peptic ulcer with bleeding	Lin et al 2020
618	26	F	Chinese	3		Compound heterozygote	c.1107C>T (p.Tyr369=)	Not Reported	Bleeding upon tooth extraction	Shao et al 2016
619	41	F	Chinese	4		Compound heterozygote	c.1778C>T (p.Thr593Met)	Not Reported	Bleeding following injury/surgery and postpartum hemorrhage	Shao et al 2016
625	22	F	Chinese	<1		Compound heterozygote	c.326-1G>A	Not Reported	Epistaxis and easy bruising	Shao et al 2016
626	33	M	Chinese	2		Compound heterozygote	c.1107C>T (p.Tyr369=)	Not Reported	Bleeding following injury/surgery	Shao et al 2016
651	43	F	Taiwanese	1		Homozygote		Not Reported	Easy bruising, bleeding after dental extraction and postoperative bleeding (Grade II bleeding)	Lin et al 2020
655	13	M	Taiwanese	7		Compound heterozygote	c.434A>G (p.His145Arg)	Not Reported	Easy bruising (Grade II bleeding)	Lin et al 2020
656	38	F	Taiwanese	<1		Homozygote		Not Reported	Bleeding after dental extraction (Grade II bleeding)	Lin et al 2020
657	61	M		2	<1	Compound heterozygote	c.1107C>A (p.Tyr369*)	Not Reported	No bleeding	Lin et al 2020
679	4	M		<1		Compound heterozygote	c.738G>A (p.Trp246*)	Severe	Bruising	Zhang et al 2020
687	30	F		6		Homozygote		Severe	Bruising	Zhang et al 2020

Structural Interpretation:

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

Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: