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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 4 unique variants retrieved

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  c.781T>C
p.(Trp261Arg) Legacy AA 215
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
781
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
6
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
1445
4
-
Moderate
-
-
Centre B21 (unpublished)
1446
<1
<1
Sporadic
Severe
-
United States
-
Chen et al (1995)
1447
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
1448
3
-
Moderate
-
-
Centre B30 (unpublished)
1449
-
-
-
-
Centre B30 (unpublished)
1452
4
<1
Moderate
I
United States
-
Bottema et al (1990C)
  c.781T>G
p.(Trp261Gly) Legacy AA 215
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
781
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
1450
<1
-
Severe
-
-
Centre B11 (unpublished)
1451
3
-
Moderate
-
-
Centre B25 (unpublished)
  c.782G>A
p.(Trp261Leu) Legacy AA 215
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
782
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
1453
-
-
-
-
Centre B39 (unpublished)
1454
<1
0.1
Severe
-
United States
-
Chen et al (1991a)
  c.783G>T
p.(Trp261Cys) Legacy AA 215
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
783
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
1455
-
-
-
-
Centre B30 (unpublished)
1456
<1
<1
Severe
-
Taiwan
-
Lin and Shen (1993)
4096
<1
Severe
NO
United States
Johnsen et al (2017)
4097
<1
Severe
NO
United States
Johnsen et al (2017)
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