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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 6 unique variants retrieved

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  c.799delC
p.(His267Thrfs*30) Legacy AA 221
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
799
Variant Effect:
Frameshift
Location:
Exon(7)
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 (Deletion | Frameshift) of variant at Exon 7.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1478
-
-
Severe
-
China
-
Liu et al (2000)
1479
-
-
Severe
-
Italy
-
Belvini et al (2005)
1481
<1
<1
Severe
-
-
Centre B15 (unpublished)
  c.799C>T
p.(His267Tyr) Legacy AA 221
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
799
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
5.5E-6
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
1482
<1
5
Severe
II
-
Centre B38 (unpublished)
1483
1
-
Moderate
-
Sweden
-
Ljung et al (2001)
4104
<1
Severe
NO
United States
Johnsen et al (2017)
  c.800A>G
p.(His267Arg) Legacy AA 221
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
800
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
1484
1
62
Moderate
II
NO
France
-
Attali et al (1999)
1485
<1
-
Severe
-
India
-
Jayandharan et al (2005)
  c.800A>T
p.(His267Leu) Legacy AA 221
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
800
Variant Effect:
Missense
Location:
Exon(7)
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
4757
<1
Severe
NO
United States
Johnsen et al (2017)
  c.801C>A
p.(His267Gln) Legacy AA 221
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
801
Variant Effect:
Missense
Location:
Exon(7)
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
1486
<1
100
Severe
II
United States
-
Weinmann et al (1998)
  c.801C>G
p.(His267Gln) Legacy AA 221
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
801
Variant Effect:
Missense
Location:
Exon(7)
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
4758
<1
Severe
NO
United States
Johnsen et al (2017)
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