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Factor IX Gene (F9) Variant Database  

F9
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SCREEN TABLE



Search Results: 3 unique variants retrieved

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  c.715C>T
p.(Pro239Ser) Legacy AA 193
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
715
Variant Effect:
Missense
Location:
Exon(6)
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
1361
3
17
Moderate
II
Germany
-
Wulff et al (1999)
  c.716C>G
p.(Pro239Arg) Legacy AA 193
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
716
Variant Effect:
Missense
Location:
Exon(6)
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
1362
<1
-
Severe
-
India
-
Jayandharan et al (2003)
  c.716C>T
p.(Pro239Leu) Legacy AA 193
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
716
Variant Effect:
Missense
Location:
Exon(6)
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
4752
<1
Severe
NO
United States
Johnsen et al (2017)
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