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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 3 unique variants retrieved

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  c.730_731delTT
p.(Leu244Glufs*3) Legacy AA 198
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
730
Variant Effect:
Frameshift
Location:
Exon(7)
CpG:
No. of cases reported:
1
No. of bases:
2
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
4824
<1
Severe
NO
United States
Johnsen et al (2017)
  c.731T>C
p.(Leu244Ser) Legacy AA 198
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
731
Variant Effect:
Missense
Location:
Exon(7)
CpG:
N
No. of cases reported:
4
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
1397
<1
<1
Severe
-
United States
-
Ketterling et al (1993A)
1399
5.6-12
-
Mild
I
India
-
Ghosh et al (2009)
1400
5.6-12
-
Mild
I
India
-
Ghosh et al (2009)
3718
<1
<1
Severe
NO
Italy
Bicocchi et al (2006)
  c.731T>G
p.(Leu244Trp) Legacy AA 198
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
731
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
1398
2
-
Moderate
-
United Kingdom
-
Saad et al (1994)
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