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Factor IX Gene (F9) Variant Database  

F9
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SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.286C>T
p.(Gln96*) Legacy AA 50
Variant Type:
Point
Domain:
EGF1
cDNA number:
286
Variant Effect:
Nonsense
Location:
Exon(4)
CpG:
N
No. of cases reported:
3
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
593
<1
-
Severe
-
-
Centre B12 (unpublished)
594
<1
-
Severe
-
France
-
Costa et al (2000)
595
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.286C>G
p.(Gln96Glu) Legacy AA 50
Variant Type:
Point
Domain:
EGF1
cDNA number:
286
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
596
<1
<1
Severe
-
India
-
Quadros et al, (2009)
  c.287A>C
p.(Gln96Pro) Legacy AA 50
Variant Type:
Point
Domain:
EGF1
cDNA number:
287
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
597
<1
114
Severe
II
United States
-
Lozier et al (1990)
  c.288G>C
p.(Gln96His) Legacy AA 50
Variant Type:
Point
Domain:
EGF1
cDNA number:
288
Variant Effect:
Missense
Location:
Exon(4)
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
598
-
-
-
-
Centre B30 (unpublished)
600
24
-
Mild
-
United Kingdom
-
Saad et al (1994)
  c.288G>T
p.(Gln96His) Legacy AA 50
Variant Type:
Point
Domain:
EGF1
cDNA number:
288
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
599
15
-
Mild
-
-
Centre B20 (unpublished)
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