Factor XI Variant Database

Search Results: 1 unique variant retrieved.

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

c.1026G>T

p.Gly342= (Legacy AA No. 324)

Variant Type:

Point

Domain:

Apple 4

Codon Change:

G>T

Variant Effect:

Silent

No. of Patients Reported:

Phenotype:

Allele Count *:

Allele Number *:

251462

Allele Frequency *:

0.000004

Variant Comments & Reference:

This alteration is predicted to affect pre-mRNA splicing and is a synonymous codon change (GGG_GGT) at codon G342 in exon 9. Variant creates a new donor splice site and introduces a premature stop codon at codon 348. Variant is believed to be a polymorphism. Ventura et al 2000

Patient Information: Show

Patient_ID	Age	Gender	Race	FXI:C%	FXI:Ag(%)	Inheritance	Other Variants	Severity	Comments	Reference
54		F	Portuguese	1	5	Compound heterozygote	c.1608G>C (p.Lys536Asn)	Severe	Excessive bleeding after dental extraction. Menorrhagia.	Ventura et al 2000
55		F	Portuguese	1	12	Compound heterozygote	c.1608G>C (p.Lys536Asn)	Severe	Non-bleeder.	Ventura et al 2000
470	50	F	Portugese	2		Compound heterozygote	c.1247G>A (p.Cys416Tyr)	Not Reported	No bleeding Hx.	Zucker et al 2007

Structural Interpretation:

Structural analysis cannot be performed on this (Point | Silent) 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: