Search Results:
1 unique variant retrieved.
Terms with a '* ' next to them are explained on the Help Page .
c.964G>A
p.Asp322Asn (Legacy AA No. 282)
Domain: 
Serine protease
Variant Effect: 
Missense
No. of Patients Reported: 
15
Allele Frequency *: 
-
References and Comments:
Messier et al 1996; Millar et al 2000; Herrmann et al 2006
Substitution of active site Asp for Asn significantly affects FX catalytic activity (FX Stockton).
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
271
F
43
101
Heterozygous
Not Reported
Bleeding post-labour. Related to pa_id: 272-284.
Messier et al 1996
272
M
60
78
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 273-284.
Messier et al 1996
273
M
39
96
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 274-284.
Messier et al 1996
274
F
70
75
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271, 272, 273, 275-284.
Messier et al 1996
275
F
64
75
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-274, 276-284.
Messier et al 1996
276
F
45
58
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-275, 277-284.
Messier et al 1996
277
F
31
98
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-276, 278-284.
Messier et al 1996
278
F
61
114
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-277, 279-284.
Messier et al 1996
279
F
66
74
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-278, 280-284.
Messier et al 1996
280
F
40
79
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-279, 281-284.
Messier et al 1996
281
M
60
96
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-280, 282, 283 & 284.
Messier et al 1996
282
M
52
71
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-281, 283 & 284.
Messier et al 1996
283
M
38
48
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-282 & 284.
Messier et al 1996
284
M
42
78
Heterozygous
Not Reported
Family history of bleeding (e.g. after surgery or dental work, menorrhagia and easy bruising). Related to pa_id: 271-283.
Messier et al 1996
66
6
Heterozygous
c.979C>T (p.Arg327Trp)
Not Reported
Millar et al 2000
Structural Interpretation:
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Factor X Variant Database