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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: 4 unique variants retrieved

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  2. 1
  3. »
  c.760G>C
p.(Gly254Arg) Legacy AA 208
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
760
Variant Effect:
Missense
Location:
Exon(7)
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
4755
1
Moderate
NO
United States
Johnsen et al (2017)
  c.760G>A
p.(Gly254Ser) Legacy AA 208
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
760
Variant Effect:
Missense
Location:
Exon(7)
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
1428
1
-
Moderate
-
India
-
Mukherjee et al (2004)
4092
<1
Severe
NO
United States
Johnsen et al (2017)
4093
<1
Severe
NO
United States
Johnsen et al (2017)
4094
1
Moderate
NO
United States
Johnsen et al (2017)
  c.761G>A
p.(Gly254Asp) Legacy AA 208
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
761
Variant Effect:
Missense
Location:
Exon(7)
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
1429
-
1
-
United Kingdom
-
Saad et al (1994)
1430
6
<1
Mild
I
NO
France
-
Attali et al (1999)
1431
-
-
-
-
Centre B39 (unpublished)
3542
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
  c.761G>T
p.(Gly254Val) Legacy AA 208
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
761
Variant Effect:
Missense
Location:
Exon(7)
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
1432
-
-
Severe
-
Italy
-
Belvini et al (2005)
4095
1.9
Moderate
NO
United States
Johnsen et al (2017)
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