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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 6 unique variants retrieved

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  2. 1
  3. »
  c.1228G>A
p.(Asp410Asn) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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
2572
2
-
Moderate
-
United Kingdom
-
Saad et al (1994)
2573
<1
-
Severe
-
-
Centre B21 (unpublished)
  c.1228G>C
p.(Asp410His) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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
2574
2
95
Moderate
II
United States
-
Bottema et al (1990C)
2575
<1
100
Severe
II
Germany
-
Ludwig et al (1992B)
  c.1228G>T
p.(Asp410Tyr) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1228
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
2576
<1
-
Severe
-
United States
-
Li et al (2000)
3687
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4454
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1229A>G
p.(Asp410Gly) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1229
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
2577
-
-
-
China
-
Liu et al (2000)
2578
1
-
Moderate
-
-
Centre B38 (unpublished)
  c.1229A>T
p.(Asp410Val) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1229
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
2579
<1
130
Severe
II
United States
-
Chen et al (1991a)
3622
-
-
Moderate
-
NO
China
-
Yu et al (2012)
  c.1230T>G
p.(Asp410Glu) Legacy AA 364
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1230
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
2580
<1
-
Severe
-
Italy
-
Belvini et al (2005)
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