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Factor IX Gene (F9) Variant Database  

F9
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MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 6 unique variants retrieved

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  2. 1
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  c.1276A>G
p.(Thr426Ala) Legacy AA 380
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1276
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
2651
<1
-
Severe
-
United States
-
Li et al (2000)
  c.1276A>C
p.(Thr426Pro) Legacy AA 380
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1276
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
2650
<1
-
Severe
-
Portugal
-
David et al (1993)
  c.1277C>A
p.(Thr426Asn) Legacy AA 380
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
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
2652
1.4
-
Moderate
-
-
Centre B30 (unpublished)
  c.1277C>T
p.(Thr426Ile) Legacy AA 380
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
2654
<1
1
Severe
-
United Kingdom
-
Saad et al (1994)
2655
0
-
Severe
-
-
Centre B36 (unpublished)
2657
0
-
Severe
-
Italy
-
Belvini et al (2005)
  c.1277C>G
p.(Thr426Ser) Legacy AA 380
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1277
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
2653
7
<10
Mild
I
China
Patient tested at Hong Kong
Chan et al (1991)
  c.1278delT
p.(Thr426Thrfs*12) Legacy AA 380
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1278
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
2658
<1
<1
Severe
-
China
Patient tested at Hong Kong
Chan et al (1991)
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