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Factor IX Gene (F9) Variant Database  

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Data Display Options:
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
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Search Results: 4 unique variants retrieved

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  c.1207_1214dup
p.(Asp405Glufs*24) Legacy AA 359
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1207
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
No. of cases reported:
1
No. of bases:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Duplication | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
4811
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1213G>A
p.(Asp405Asn) Legacy AA 359
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1213
Variant Effect:
Missense
Location:
Exon(8)
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
2541
-
-
-
China
-
Liu et al (2000)
2542
<1
100
Severe
II
-
Centre B38 (unpublished)
  c.1213_1214delGA
p.(Asp405Phefs*6) Legacy AA 359
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1213
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3146
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
3147
<1
-
Severe
-
-
Centre B39 (unpublished)
  c.1214A>G
p.(Asp405Gly) Legacy AA 359
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1214
Variant Effect:
Missense
Location:
Exon(8)
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
2543
1.5
-
Moderate
-
-
Centre B18 (unpublished)
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