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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.1174A>G
p.(Asn392Asp) Legacy AA 346
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1174
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
9
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
2467
22
63
Mild
II
-
Centre B38 (unpublished)
2468
<1
100
Severe
II
United States
-
Weinmann et al (1998)
4426
24
Mild
NO
United States
Johnsen et al (2017)
4427
19
Mild
NO
United States
Johnsen et al (2017)
4428
14
Mild
NO
United States
Johnsen et al (2017)
4429
14
Mild
NO
United States
Johnsen et al (2017)
4430
46
Mild
NO
United States
Johnsen et al (2017)
4431
10
Mild
United States
Johnsen et al (2017)
4432
17
Mild
United States
Johnsen et al (2017)
  c.1174_1175dup
p.(Asn392Lysfs*35) Legacy AA 346
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1174
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 (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
2939
<1
<1
Familial
Severe
-
United States
-
Chen et al (1995)
3652
-
-
Severe
-
NO
United States
-
Miller et al (2012)
  c.1176_1180delinsG
p.(Asn392Lysfs*33) Legacy AA 346
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1176
Variant Effect:
Frameshift
Location:
Exon(8)
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 (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
2960
<1
<1
Severe
-
-
Centre B23 (unpublished)
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