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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.709C>T
p.(Gln237*) Legacy AA 191
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
709
Variant Effect:
Nonsense
Location:
Exon(6)
CpG:
N
No. of cases reported:
5
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 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1354
<1
5
Severe
II
-
Aguilar-Martinez et al (1994B)
1355
<1
4
Severe
II
-
Centre B39 (unpublished)
1356
<1
3
Severe
II
-
Centre B38 (unpublished)
1357
<1
<1
Severe
-
YES
Japan
-
Matsushita et al (1990)
4590
<1
Severe
United States
Johnsen et al (2017)
  c.709C>A
p.(Gln237Lys) Legacy AA 191
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
709
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
1353
<1
<0.1
Severe
-
YES
United States
-
Chen et al (1991a)
  c.711A>G
p.(Gln237Gln) Legacy AA 191
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
711
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of cases reported:
2
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 | Silent) of variant at Exon 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1358
<1
<3
Severe
I
-
Centre B24 (unpublished)
1359
3
2
Moderate
I
United States
-
Thompson et al (1992A)
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