Search Results:
1 unique variant retrieved.
Terms with a '* ' next to them are explained on the Help Page .
c.438C>A
p.Cys146* (Legacy AA No. 128)
No. of Patients Reported:
22
Allele Frequency *:
0.000035
Variant Comments & Reference:
Founder mutation found in English patients. Peretz et al 1997
Patient Information:
Show
Patient_ID
Age
Gender
Race
FXI:C%
FXI:Ag(%)
Inheritance
Other Variants
Severity
Comments
Reference
39
50
M
Non-Jewish
49
41
Heterozygote
Mild
History of excessive bleeding. Bled for 6 hours after dental extractions at age 17.
Imanaka et al 1995
60
North European Caucasian
4
Compound heterozygote
c.809A>T (p.Lys270Ile)
Severe
No active bleeding problems following laporoscopic sterilization.
Dai et al 2004
70
59
F
English/Irish
<1
Homozygote
Severe
Fall resulting in nasal trauma and prolonged bleeding.
Zacharski & French 1978
71
86
M
English
<2
Compound heterozygote
Severe
Patient also has a 1bp insertion in exon 4 on the other allele but this is not reported in detail.
Bolton-Maggs et al 2004
72
35
M
Scottish
65
64
Heterozygote
Mild
Bleed after dental extraction, tonsilliectomy, sinus surgery and appendectom
y.
Bolton-Maggs et al 2004
73
50
M
English
<1
<1
Compound heterozygote
Severe
Misdiagnosed as hemophilia A.
Bolton-Maggs et al 2004
74
18
M
Irish
34
27
Heterozygote
Mild
Bled after cardiac catheter and after aortic valve replacement.
Bolton-Maggs et al 2004
75
63
F
<1
Homozygote
Severe
Long APTT as incidental findingm but previous history of bleeding after dilatation and curettage requiring blood transfusion and return to theater. Tonsillectomy
as a child without recorded problems.
Bolton-Maggs et al 2004
88
63
M
38
Heterozygote
Not Reported
Cerebal hemorrhage after fall, but no bleeding after tonsilectomy or dental extraction in
his youth.
Bolton-Maggs et al 2004
89
32
F
Scottish/English
45
Heterozygote
Not Reported
Easy bruising in pregnancy, no bleeding after wisdom teeth extraction
Bolton-Maggs et al 2004
90
54
F
English
46
Heterozygote
Not Reported
Extensive bruising of face and neck after wisdom teeth extraction aged 21
Bolton-Maggs et al 2004
91
50
F
English
16
Heterozygote
Not Reported
Menorrhagia, bruising after hysterectomy
Bolton-Maggs et al 2004
169
29
F
29
29
Not Reported
Post-Partum Haemorrhage
Hill et al 2005
170
33
F
44
38
Not Reported
Asymtomatic
Hill et al 2005
171
55
F
41
Not Reported
Post Partum Haemorrhage, epistaxis, postoperative bleed requiring transfusion
Hill et al 2005
214
UK Population
<1
<3
Compound heterozygote
c.3G>T (p.Met1Ile)
Severe
Mitchell et al 2006
222
UK Population
2
Compound heterozygote
c.325G>A (p.Ala109Thr)
Not Reported
Mitchell et al 2006
227
UK Population
<1
Compound heterozygote
c.452A>G (p.Tyr151Cys)
Severe
Mitchell et al 2006
240
UK Population
4
Compound heterozygote
c.809A>T (p.Lys270Ile)
Not Reported
Mitchell et al 2006
374
F
<1
Compound heterozygote
Severe
Menorrhagia and 'excess bleeding/bruising tendency'
Mitchell et al 2007
448
61
Heterozygote
Not Reported
Saunders et al 2009
504
65
M
Australian
<2
Compound heterozygote
31.5KbDeletion
Severe
Patient has a bleeding Hx.
Duncan et al 2008
Structural Interpretation:
Structural analysis cannot be performed on this (Point | Nonsense) variant.
Factor XI Variant Database
