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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: 6 unique variants retrieved

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  c.946_953dup
p.(Glu320Profs*9) Legacy AA 274
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
946
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2934
<1
-
Familial
Severe
-
India
-
Jayandharan et al (2005)
  c.957_958delGGinsC
p.(Glu320Asnfs*6) Legacy AA 274
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
957
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2958
-
-
-
-
Centre B30 (unpublished)
  c.958G>T
p.(Glu320*) Legacy AA 274
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
958
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Point | Nonsense) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1896
<1
-
Severe
-
-
Centre B30 (unpublished)
  c.959A>G
p.(Glu320Gly) Legacy AA 274
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
959
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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
1897
18
-
Mild
-
-
Centre B13 (unpublished)
  c.960A>C
p.(Glu320Asp) Legacy AA 274
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
960
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
4764
<1
Severe
NO
United States
Johnsen et al (2017)
4765
<1
Severe
NO
United States
Johnsen et al (2017)
  c.960delA
p.(Glu320Aspfs*6) Legacy AA 274
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
960
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
1
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1898
-
-
-
United Kingdom
-
Saad et al (1994)
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