Factor XI Variant Database

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

c.1211C>A

p.Thr404Asn (Legacy AA No. 386)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

C>A

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

Allele Frequency *:

Saunders et al 2005

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Severity	Comments	Reference
32	8	F	Arab	2	Decreased	Homozygote	Severe	No history of abnormal bleeding and no surgery. Received fresh frozen plasma at age 8 for release of tethered spinal cord without unusual bleeding.	Wistinghausen et al 1997
33		M	Arab	2	Decreased	Homozygote	Severe	Minor bleeding following surgery on patients nose.	Wistinghausen et al 1997
34		F	Arab	108	Normal	Heterozygote	Mild		Wistinghausen et al 1997

Please click HERE for in-depth variant analysis.

Factor XI Variant Database

Factor XI Gene (F11)