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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 6 unique variants retrieved

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  2. 1
  3. »
  c.322delT
p.(Cys108Alafs*23) Legacy AA 62
Variant Type:
Deletion
Domain:
EGF1
cDNA number:
322
Variant Effect:
Frameshift
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
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 (Deletion | Frameshift) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
721
-
-
Severe
-
United States
-
Li et al (2000)
722
-
-
Severe
-
United States
-
Li et al (2000)
  c.323G>T
p.(Cys108Phe) Legacy AA 62
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
Variant Effect:
Missense
Location:
Exon(4)
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
727
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.323G>C
p.(Cys108Ser) Legacy AA 62
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
Variant Effect:
Missense
Location:
Exon(4)
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
726
<1
-
Severe
-
Spain
-
Montejo et al (1999)
  c.323G>A
p.(Cys108Tyr) Legacy AA 62
Variant Type:
Point
Domain:
EGF1
cDNA number:
323
Variant Effect:
Missense
Location:
Exon(4)
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
723
-
-
-
United Kingdom
-
Haris et al (1994)
724
1
-
Moderate
-
United States
-
Thorland et al (1995)
725
-
-
-
-
Centre B39 (unpublished)
  c.324C>A
p.(Cys108*) Legacy AA 62
Variant Type:
Point
Domain:
EGF1
cDNA number:
324
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
2
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 (Point | Nonsense) of variant at Exon 4.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
728
-
-
-
Spain
-
Montejo et al (1999)
4575
<1
Severe
NO
United States
Johnsen et al (2017)
  c.324C>G
p.(Cys108Trp) Legacy AA 62
Variant Type:
Point
Domain:
EGF1
cDNA number:
324
Variant Effect:
Missense
Location:
Exon(4)
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
729
0
-
Severe
-
Italy
-
Belvini et al (2005)
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