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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.163T>A
p.(Phe55Ile) Legacy AA 9
Variant Type:
Point
Domain:
Gla
cDNA number:
163
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
13
No. of bases:
1
Allele Frequency (MAF):
5.5E-6
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
349
14
118
Mild
II
United Kingdom
-
Saad et al (1994)
350
13
-
Mild
-
-
Centre B30 (unpublished)
351
25
-
Mild
-
-
Centre B30 (unpublished)
352
12
-
Mild
-
France
-
Costa et al (2000)
353
5
-
Moderate
-
-
Centre B13 (unpublished)
354
21
-
Mild
-
NO
France
-
Attali et al (1999)
356
-
-
-
-
Centre B39 (unpublished)
358
20
-
Mild
-
-
Centre B36 (unpublished)
359
8
-
Mild
-
-
Centre B13 (unpublished)
360
8
-
Mild
-
-
Centre B13 (unpublished)
361
15
68
Mild
II
NO
Italy
-
Bicocchi et al (2006)
362
10
-
Mild
-
Italy
-
Belvini et al (2005)
363
4
82
Moderate
II
-
Centre B20 (unpublished)
  c.164_173delTTGTTCAAGG
p.(Phe55*) Legacy AA 9
Variant Type:
Deletion
Domain:
Gla
cDNA number:
164
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
10
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3077
<1
<1
Severe
-
YES
-
Centre B33 (unpublished)
  c.164T>G
p.(Phe55Cys) Legacy AA 9
Variant Type:
Point
Domain:
Gla
cDNA number:
164
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
365
<1
-
Severe
-
Spain
-
Montejo et al (1999)
366
10
-
Mild
-
Brazil
-
Meireles et al (2017)
  c.164T>C
p.(Phe55Ser) Legacy AA 9
Variant Type:
Point
Domain:
Gla
cDNA number:
164
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to show detailed structural analysis of this variant.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
364
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
3879
2.6
Moderate
NO
United States
Johnsen et al (2017)
  c.165_169delTGTTC
p.(Phe55*) Legacy AA 9
Variant Type:
Deletion
Domain:
Gla
cDNA number:
165
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
No. of bases:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Deletion | Frameshift) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3078
<1
<1
Severe
-
YES
Germany
-
Ludwig et al (1992A)
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