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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.1009G>C
p.(Ala337Pro) Legacy AA 291
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1009
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
1954
<1
-
Severe
-
-
Centre B13 (unpublished)
1955
2
3
Moderate
II
United Kingdom
-
Winship and Dragon (1991)
  c.1009G>A
p.(Ala337Thr) Legacy AA 291
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1009
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
10
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
3754
4-16
Mild
United Kingdom
Green et al (1992)
1945
7
9
Mild
I
United Kingdom
-
Green et al (1992)
1946
9
11
Mild
I
United Kingdom
-
Green et al (1992)
1947
7
10
Mild
-
United Kingdom
-
Saad et al (1994)
1948
10
-
Mild
-
United Kingdom
-
Saad et al (1994)
1949
6
-
Mild
-
United Kingdom
-
Saad et al (1994)
1950
-
-
-
-
Centre B30 (unpublished)
1951
<1
-
Severe
-
United States
-
Li et al (2000)
1952
1
-
Moderate
-
United States
-
Li et al (2000)
1953
10
-
Mild
-
United Kingdom
-
Montandon et al (1989)
  c.1010C>T
p.(Ala337Val) Legacy AA 291
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1010
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
5
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
1956
9
-
Mild
-
United States
-
Weinmann et al (1998)
1957
8
-
Mild
-
-
Centre B25 (unpublished)
4190
6
Mild
United States
Johnsen et al (2017)
4191
7
Mild
United States
Johnsen et al (2017)
4192
7
Mild
NO
United States
Johnsen et al (2017)
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