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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: 3 unique variants retrieved

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  c.869_870delCA
p.(Thr290Argfs*20) Legacy AA 244
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
869
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
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 (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
4826
<1
Severe
NO
United States
Johnsen et al (2017)
  c.869C>T
p.(Thr290Ile) Legacy AA 244
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
869
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
4759
28
Mild
NO
United States
Johnsen et al (2017)
4760
24
Mild
NO
United States
Johnsen et al (2017)
4761
24
Mild
NO
United States
Johnsen et al (2017)
  c.869delC
p.(Thr290Lysfs*7) Legacy AA 244
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
869
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
1598
1
-
Moderate
-
-
Centre B36 (unpublished)
1599
-
-
Severe
-
Italy
-
Belvini et al (2005)
3440
0
-
Severe
-
NO
Italy
-
Belvini et al (2005)
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