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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.277G>A
p.(Asp93Asn) Legacy AA 47
Variant Type:
Point
Domain:
EGF1
cDNA number:
277
Variant Effect:
Missense
Location:
Exon(3)
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
574
-
-
Moderate
-
United States
-
Li et al (2000)
575
<1
<1
Severe
-
United Kingdom
-
Saad et al (1994)
576
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
577
<1
-
Severe
-
-
Centre B39 (unpublished)
3660
-
-
Severe
-
NO
United States
-
Miller et al (2012)
3904
<1
Severe
NO
United States
Johnsen et al (2017)
  c.277G>C
p.(Asp93HIs) Legacy AA 47
Variant Type:
Point
Domain:
EGF1
cDNA number:
277
Variant Effect:
Missense
Location:
Exon(3)
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
578
<1
-
Severe
-
India
-
Mahajan et al (2007)
  c.278A>G
p.(Asp93Gly) Legacy AA 47
Variant Type:
Point
Domain:
EGF1
cDNA number:
278
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
580
24
-
Mild
-
-
Centre B35 (unpublished)
581
10
100
Mild
II
United States
-
Davis et al (1987)
  c.278A>T
p.(Asp93Val) Legacy AA 47
Variant Type:
Point
Domain:
EGF1
cDNA number:
278
Variant Effect:
Missense
Location:
Exon(4)
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
4741
4
Moderate
NO
United States
Johnsen et al (2017)
  c.279T>A
p.(Asp93Glu) Legacy AA 47
Variant Type:
Point
Domain:
EGF1
cDNA number:
279
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
582
1
90
Moderate
II
United Kingdom
-
Winship and Dragon (1991)
583
14
80
Mild
II
United States
-
Bottema et al (1990C)
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