Search Results:
1 unique variant retrieved.
Terms with a '* ' next to them are explained on the Help Page .
c.61G>A
p.Gly21Arg (Legacy AA No. -20)
No. of Patients Reported:
21
Allele Frequency *:
0.000049
References and Comments:
Watzke et al 1991; Millar et al 2000; Othman et al 2019
Patient Information:
Show
Patient_ID
Age (Yrs)
Gender
Race
FX:C(%)
FX:C (IU/dl)
FX:Ag(%)
FX:Ag (IU/dl)
Inheritance
Other Variants
Severity
Comments
Reference
127
22
M
Spanish
<1
1
Heterozygous
c.736T>C (p.Cys246Arg)
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
128
58
F
Spanish
<1
5
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
13
25
M
Indian
<1
Homozygous
Severe
Hemetemesis, CNS bleed, hemarthrosis.
Mota et al 2010
130
40
F
American
<1
3
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
138
14
F
German
3
8
Homozygous
Moderate
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
154
Iranian
<1
4
Homozygous
Severe
Gum bleeding, hemarthroses, hematomas. Related to pa_id: 155-159.
Karimi et al 2008
155
F
Iranian
<1
5
Homozygous
Severe
Gum bleeding, hemarthroses, hematomas. Related to pa_id: 154, 156-159.
Karimi et al 2008
156
M
Iranian
23
43
Heterozygous
Not Reported
Gum bleeding, epistaxis, post-trauma hemarthroses, hematomas, bleeding post dental extraction and circumcision. Related to pa_id: 154, 155, 157, 158 & 159.
Karimi et al 2008
157
M
Iranian
<1
2
Homozygous
Severe
Epistaxis, hematuria, hemarthroses, bleeding post dental extraction and cicumcision. Related to pa_id: 154, 155, 156, 158 & 159.
Karimi et al 2008
158
F
Iranian
46
44
Heterozygous
Not Reported
Post dental extraction bleeding. Related to pa_id: 154, 155 & 156.
Karimi et al 2008
159
M
Iranian
64
48
Heterozygous
Asymptomatic
Asymptomatic. Related to pa_id: 154, 155 & 156.
Karimi et al 2008
160
F
Iranian
<1
<1
Homozygous
Severe
Gum bleeding, epistaxis, ecchymoses, menorrhagia. Related to pa_id: 161.
Karimi et al 2008
161
F
Iranian
42
36
Heterozygous
Not Reported
Asymptomatic. Related to pa_id: 160.
Karimi et al 2008
427
38
M
Spanish
1
Homozygous
Moderate
Cardiac tamponade. Dyspnea on exertion and orthopnea. Epistaxis. Prolonged bleeding following appendectomy.
Othman et al 2019
67
2
3
Homozygous
Not Reported
Significant hemorrhagic symptoms. Related to pa_id: 68 & 69.
Millar et al 2000
68
1
Homozygous
Not Reported
Related to pa_id: 67 & 69.
Millar et al 2000
69
1
Homozygous
Not Reported
Related to pa_id: 67 & 68.
Millar et al 2000
72
16
F
Dominican
<1
5
Homozygous
Severe
Heavy menstrual bleeding. Related to pa_id: 73 & 74.
Watzke et al 1991
73
M
Dominican
38
50
Heterozygous
Asymptomatic
Asymptomatic. Related to pa_id: 72.
Watzke et al 1991
74
F
Dominican
29
50
Heterozygous
Asymptomatic
Asymptomatic. Related to pa_id: 72.
Watzke et al 1991
90
23
F
Iranian
0.7
-
Severe
Menorrhagia, hemarthrosis, hematoma.
Karimi et al 2012
Structural Interpretation:
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Factor X Variant Database
