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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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SCREEN TABLE



Search Results: 5 unique variants retrieved

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  2. 1
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  c.1294G>T
p.(Gly432Cys) Legacy AA 386
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1294
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
4780
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1294G>A
p.(Gly432Ser) Legacy AA 386
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1294
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
2689
2
-
Moderate
-
-
Centre B30 (unpublished)
2690
<1
-
Sporadic
Severe
-
India
-
Jayandharan et al (2005)
2692
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2693
-
-
Severe
-
Germany
-
Wulff et al (1995)
3483
<1
-
Severe
-
India
-
Jayandharan et al (2009)
3691
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4474
<1
Severe
NO
United States
Johnsen et al (2017)
4475
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1295G>C
p.(Gly432Ala) Legacy AA 386
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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
2699
-
-
-
-
Centre B18 (unpublished)
2700
-
-
-
Germany
-
Wulff et al (2001)
2701
<5
-
Moderate
-
Germany
-
Wulff and Herrmann (1999)
2702
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
  c.1295G>A
p.(Gly432Asp) Legacy AA 386
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
5
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
2695
2
120
Moderate
II
Japan
publication unavailable: J Nara Med Ass 43, 503-10
Kuze et al (1992)
2696
2
119
Moderate
II
-
Centre B14 (unpublished)
2697
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
2698
<1
-
Severe
-
India
-
Mukherjee et al (2004)
4476
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1295G>T
p.(Gly432Val) Legacy AA 386
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1295
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
3791
1
-
Moderate
-
Spain
-
Montejo et al (1999)
2703
1
-
Moderate
-
Spain
-
Montejo et al (1999)
2704
<1
-
Severe
-
United States
-
Heit et al (1998)
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