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Factor IX Gene (F9) Variant Database  

F9
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SCREEN TABLE
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EXCEL/CSV
SCREEN TABLE



Search Results: 7 unique variants retrieved

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  2. 1
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  c.421T>C
p.(Cys141Arg) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
421
Variant Effect:
Missense
Location:
Exon(5)
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
846
0.9
-
Severe
-
Italy
-
Belvini et al (2005)
847
<1
-
Severe
-
NO
Italy
-
Bicocchi et al (2006)
848
-
-
-
-
Centre B17 (unpublished)
  c.421T>A
p.(Cys141Ser) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
421
Variant Effect:
Missense
Location:
Exon(5)
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
849
<1
-
Severe
-
-
Centre B21 (unpublished)
  c.422G>T
p.(Cys141Phe) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
Variant Effect:
Missense
Location:
Exon(5)
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
857
-
-
-
-
Centre B2 (unpublished)
  c.422G>C
p.(Cys141Ser) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
Variant Effect:
Missense
Location:
Exon(5)
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
856
<1
-
Severe
-
-
Centre B13 (unpublished)
  c.422G>A
p.(Cys141Tyr) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
422
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
8
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
850
5
-
Moderate
-
United States
-
Bottema et al (1991)
851
<1
6
Severe
II
United States
-
Bottema et al (1991)
852
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
853
<1
-
Severe
-
India
-
Mukherjee et al (2004)
854
-
-
-
Pakistan
-
Nawaz et al (2008)
855
<1
-
Severe
-
India
-
Mukherjee et al (2004)
3491
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
4015
<1
Severe
NO
United States
Johnsen et al (2017)
  c.423C>A
p.(Cys141*) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
423
Variant Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of cases reported:
7
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
858
<1
-
Severe
-
Canada
-
Tam et al (1991)
859
3
-
Moderate
-
United States
-
Gostout et al (1993)
860
-
-
-
United Kingdom
-
Saad et al (1994)
861
0.9
-
Severe
-
Italy
-
Belvini et al (2005)
862
3.5
-
Moderate
-
-
Centre B30 (unpublished)
863
-
-
-
-
Centre B42 (unpublished)
864
<1
<10
Severe
-
-
Centre B14 (unpublished)
  c.423C>G
p.(Cys141Trp) Legacy AA 95
Variant Type:
Point
Domain:
EGF2
cDNA number:
423
Variant Effect:
Missense
Location:
Exon(5)
CpG:
N
No. of cases reported:
5
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
866
<1
-
Severe
-
Sweden
-
Ljung et al (2001)
867
<1
2
Severe
II
Denmark
-
Nielsen et al (1992)
868
2
-
Moderate
-
-
Centre B24 (unpublished)
869
<1
<5
Severe
-
NO
France
-
Attali et al (1999)
870
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
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