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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: 4 unique variants retrieved

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  c.1059_1068del
p.(Ser354Glufs*11) Legacy AA 308
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1059
Variant Effect:
Frameshift
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3127
<1
-
Severe
-
India
-
Mahajan et al (2004)
  c.1060A>C
p.(Ser354Arg) Legacy AA 308
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1060
Variant Effect:
Missense
Location:
Exon(8)
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
2129
2
-
Moderate
-
-
Centre B18 (unpublished)
4390
<1
Severe
United States
Johnsen et al (2017)
  c.1061G>A
p.(Ser354Asn) Legacy AA 308
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1061
Variant Effect:
Missense
Location:
Exon(8)
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
2130
5
26
Moderate
II
France
-
Tartary et al (1993)
2131
5
-
Moderate
-
United Kingdom
-
Saad et al (1994)
  c.1062T>G
p.(Ser354Arg) Legacy AA 308
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1062
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
2132
<1
-
Severe
-
-
Centre B23 (unpublished)
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