Factor XI Variant Database

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

c.1378T>G

p.Phe460Val (Legacy AA No. 442)

Variant Type:

Point

Domain:

Serine Protease

Codon Change:

T>G

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251396

Allele Frequency *:

0.000004

Oligonucleotide probes of WT and mutant were hybridized to 50 normal individuals. Only WT hydrized - so not a polymorphism. Imanaka et al 1995

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
38	37	F	Non-Jewish	47	50	Heterozygote		Mild	History of easy bruising but excessive bleeding after wisdom teeth extraction. Menhorragia after child birth	Imanaka et al 1995

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Factor XI Variant Database

Factor XI Gene (F11)