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Factor IX Gene (F9) Variant Database  

F9
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SCREEN TABLE



Search Results: 6 unique variants retrieved

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  c.1186T>C
p.(Cys396Arg) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1186
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
2496
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
  c.1187G>T
p.(Cys396Phe) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
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
2497
7.8
-
Mild
-
Turkey
-
Onay et al (2003)
2498
-
-
Severe
-
United States
-
Li et al (2000)
2499
1
5
Moderate
II
France
-
Tartary et al (1993)
  c.1187G>C
p.(Cys396Ser) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
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
2508
<1
45
Severe
II
Germany
-
Wulff et al (1995)
2509
-
-
-
-
Centre B19 (unpublished)
2510
2
-
Moderate
-
Spain
-
Montejo et al (1999)
2511
35
45
Mild
I
Canada
-
Taylor et al (1991)
4440
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1187G>A
p.(Cys396Tyr) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1187
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
11
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
2500
<1
-
Severe
-
Sweden
-
Ljung et al (2001)
2501
-
-
-
-
Centre B18 (unpublished)
2502
<1
-
Severe
-
-
Centre B30 (unpublished)
2503
<1
<1
Severe
-
United States
-
Weinmann et al (1998)
2504
<1
-
Severe
-
India
-
Mahajan et al (2004)
2505
<1
-
Severe
-
-
Centre B13 (unpublished)
2506
-
-
-
-
Centre B39 (unpublished)
2507
<1
<1
Severe
-
United Kingdom
-
Saad et al (1994)
4441
<1
Severe
NO
United States
Johnsen et al (2017)
4442
<1
Severe
NO
United States
Johnsen et al (2017)
4443
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1188T>A
p.(Cys396*) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1188
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2512
0.4
-
Severe
-
Turkey
-
Onay et al (2003)
  c.1188T>G
p.(Cys396Trp) Legacy AA 350
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1188
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
2513
3.6
-
Moderate
-
-
Centre B5 (unpublished)
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