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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: 4 unique variants retrieved

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  c.142A>G
p.(Asn48Asp) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
142
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
9
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
319
6
-
Mild
-
United States
-
Koeberl et al (1990B)
3869
5
Moderate
NO
United States
Johnsen et al (2017)
3870
4.7
Moderate
NO
United States
Johnsen et al (2017)
3871
5
Moderate
NO
United States
Johnsen et al (2017)
3872
4
Moderate
NO
United States
Johnsen et al (2017)
3873
<1
Severe
NO
United States
Johnsen et al (2017)
3874
<1
Severe
NO
United States
Johnsen et al (2017)
3875
3
Moderate
NO
United States
Johnsen et al (2017)
3876
3
Moderate
United States
Johnsen et al (2017)
  c.142A>T
p.(Asn48Tyr) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
142
Variant Effect:
Missense
Location:
Exon(2)
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
320
4
60
Moderate
II
France
-
Costa et al (2000)
  c.143A>T
p.(Asn48Ile) Legacy AA 2
Variant Type:
Point
Domain:
Gla
cDNA number:
143
Variant Effect:
Missense
Location:
Exon(2)
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
322
1
60
Moderate
II
Canada
-
Poon et al (1993)
  c.143delA
p.(Asn48Ilefs*56) Legacy AA 2
Variant Type:
Deletion
Domain:
Gla
cDNA number:
143
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
No. of cases reported:
1
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 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
321
<1
<1
Severe
-
France
-
Ghanem et al (1993)
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