Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.865G>C

p.Val289Leu (Legacy AA No. 271)

Variant Type:

Point

Domain:

Apple 3

Codon Change:

G>C

Variant Effect:

Missense

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251340

Allele Frequency *:

0.000004

Variant Comments & Reference:

As Val289 is the last codon of exon 8, located at its 3' splice donor junction, a mutation at this consensus splice sequence is predicted to abolish the physiological donor splice site for exon 8, resulting in an abnormal FXI transcript. Jayandharan et al 2005

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
141	9	M	Indian	2		Compound heterozygote	c.1432G>A (p.Gly478Arg)	Not Reported	Post op bleeding only	Jayandharan et al 2005

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: