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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 6 unique variants retrieved

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  c.1287dup
p.(Ser430*) Legacy AA 384
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1287
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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 (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
2942
<1
-
Severe
-
-
Centre B18 (unpublished)
  c.1288A>T
p.(Ser430Cys) Legacy AA 384
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1288
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
2668
5
20
Moderate
II
Germany
-
Wulff et al (1999)
  c.1289G>A
p.(Ser430Asn) Legacy AA 384
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1289
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2669
-
-
-
-
Centre B39 (unpublished)
  c.1289G>C
p.(Ser430Thr) Legacy AA 384
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1289
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2670
24
-
Mild
-
Spain
-
Montejo et al (1999)
  c.1290C>G
p.(Ser430Arg) Legacy AA 384
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1290
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
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
2672
-
-
-
Germany
-
Wulff et al (2001)
  c.1290C>A
p.(Ser430Arg) Legacy AA 384
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1290
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
4779
1
Moderate
NO
United States
Johnsen et al (2017)
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