Search Results:
1 unique variant retrieved.
Terms with a '* ' next to them are explained on the Help Page .
c.785G>A
p.Gly262Asp (Legacy AA No. 222)
No. of Patients Reported:
20
Allele Frequency *:
0.000011
References and Comments:
Peyvandi et al 2002; Herrmann et al 2006; Epcacan et al 2015
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
132
20
M
Turkish
<1
14
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
133
19
F
Turkish
<1
10
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
134
14
F
Turkish
<1
15
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
135
17
F
Turkish
<1
12
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
136
17
F
Turkish
<1
5
Homozygous
Severe
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
137
12
M
Turkish
<1
14
Homozygous
Moderate
Spontaneous/ hemorrhagic bleeding.
Mitchell et al 2019
144
11
M
British
1.7
Homozygous
Severe
History of severe bleeding.
Mitchell et al 2019
243
14
M
Turkish
<1
35
Homozygous
Severe
Epistaxis, gum bleeding, hemarthrosis, easy brusing. Related to pa_id: 244.
Epcacan et al 2015
244
7
M
Turkish
<1
48
Homozygous
Severe
Hemarthrosis, easy bruising, intracranial hemorrhage. Related to pa_id: 243.
Epcacan et al 2015
245
16
F
Turkish
<1
27
Homozygous
Severe
Epistaxis, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 246 & 247.
Epcacan et al 2015
246
13
F
Turkish
<1
27
Homozygous
Severe
Epistaxis, hemarthrosis, hematuria, gastrointestinal bleeding, menorrhagia, muscle hematoma. Related to pa_id: 245 & 247.
Epcacan et al 2015
247
8
M
Turkish
<1
40
Homozygous
Severe
Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding. Related to pa_id: 245 & 246.
Epcacan et al 2015
248
11
F
Turkish
<1
25
Homozygous
Severe
Epistaxis, hemarthrosis, easy brusing, muscle hematoma. Related to pa_id: 249.
Epcacan et al 2015
249
27
M
Turkish
<1
33
Homozygous
Severe
Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, intracranial hemorrhage, musclce hematoma. Died due to severe intracranial hemorrhage and oedema. Related to pa_id: 248.
Epcacan et al 2015
250
8
M
Turkish
<1
19
Homozygous
Severe
Epistaxis, hematuria, easy bruising, gastrointestinal bleeding. Related to pa_id: 251.
Epcacan et al 2015
251
4
M
Turkish
<1
25
Homozygous
Severe
Epistaxis, easy bruising. Related to pa_id: 250.
Epcacan et al 2015
252
18
F
Turkish
<1
18
Homozygous
Severe
Epistaxis, gum bleeding, hemarthrosis, easy bruising, gastrointestinal bleeding, menorrhagia.
Epcacan et al 2015
253
3
M
Turkish
<1
34
Homozygous
Severe
Epistaxis, gum bleeding, hemarthrosis, hematuria, easy bruising, gastrointestinal bleeding, intracranial hemorrhage.
Epcacan et al 2015
86
18
M
Iranian
<1
10
Homozygous
Severe
Hematomas, hemarthrosis, hematuria, epistaxis.
Peyvandi et al 2002
87
13
M
Iranian
<1
15
Homozygous
Severe
Epistaxis, gastrointestinal bleeding.
Peyvandi et al 2002
Structural Interpretation:
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