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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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  2. 1
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  c.952C>T
p.(Leu318Phe) Legacy AA 272
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
952
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
1888
<1
-
Severe
-
United States
-
Driscoll et al (1996)
  c.953T>G
p.(Leu318Arg) Legacy AA 272
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
953
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
1890
-
-
-
Turkey
-
Onay et al (2003)
1892
<1
2
Severe
II
United States
-
Bottema et al (1991)
4185
<1
Severe
NO
United States
Johnsen et al (2017)
  c.953T>A
p.(Leu318His) Legacy AA 272
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
953
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
1891
-
-
-
-
Centre B30 (unpublished)
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