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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.1112A>C
p.(Tyr371Ser) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1112
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
2223
20
-
Mild
-
-
Centre B13 (unpublished)
  c.1113C>A
p.(Tyr371*) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1113
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2224
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
2225
2
-
Moderate
-
Spain
-
Montejo et al (1999)
2226
<1
<1
Severe
-
United States
-
Gostout et al (1993)
  c.1113C>G
p.(Tyr371*) Legacy AA 325
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1113
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2227
-
-
-
-
Centre B39 (unpublished)
2228
4
-
Moderate
-
United States
-
Bottema et al (1991)
3607
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
4625
<1
Severe
NO
United States
Johnsen et al (2017)
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