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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 5 unique variants retrieved

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  c.1342delT
p.(Ser448Profs*35) Legacy AA 402
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1342
Variant Effect:
Frameshift
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2827
8
-
Mild
-
Germany
-
Ivaskevicius et al (2001)
  c.1343_1350delCCCGGTAT
p.(Ser448Cysfs*5) Legacy AA 402
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1343
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (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
3151
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
  c.1343C>T
p.(Ser448Phe) Legacy AA 402
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1343
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
2828
8
-
Mild
-
Spain
-
Vidal et al (2000)
2829
8
-
Mild
-
United States
-
Koeberl et al (1990B)
  c.1343C>A
p.(Ser448Tyr) Legacy AA 402
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1343
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
2830
7
-
Mild
-
United Kingdom
-
Enayat et al (2004)
  c.1344_1345delCCinsAAGGTACCAA
p.(Ser448fs*?) Legacy AA 402
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1344
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
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 (Indel | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2962
3
9
Moderate
II
United States
-
Rao et al (1990)
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