Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.965C>T

p.Thr322Ile (Legacy AA No. 304)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

C>T

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251374

Allele Frequency *:

0.000016

Variant Comments & Reference:

Thr322Ile was introduced into factor XI cDNA by site directed mutagenesis and cloned into pEXV-3. Amount of mutant protein secreted from cells in vitro is reduced. Pugh et al 1995

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Severity	Comments	Reference
211	36	F	French	11	26	Homozygote	Not Reported	Epistaxis, Menorrhagia and bleeding after tonsillectomay, dental extraction and d elivery	Quelin et al 2005
242			UK Population	51		Heterozygote	Not Reported		Mitchell et al 2006
602	42	M	Spanish	47		Heterozygote	Not Reported		Esteban et al 2017

Structural Interpretation:

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Factor XI Variant Database

Factor XI Gene (F11)

Variant Database

Search Results: 1 unique variant retrieved.

Variant Comments & Reference:

Patient Information: Show

Structural Interpretation: