EAHAD Logo

Factor IX Gene (F9) Variant Database  

F9
  • Home
  • Advanced Search
  • Variants
    • Variant Map
    • F9 cDNA-Protein Translation
    • New Variant?
    • Variant Statistics
    • World Map
  • AA Alignments
    • FIX Ten Species
    • IX-VII-X-PC-CHY
  • Resources
    • Published References
    • Coagbase Data
    • Uniprot FA9
  • Structures
  • Support
    • Submit Variants
    • Organisations
    • EAHAD DB
    • Contact Us
    • Help
Data Display Options:
UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 10 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1066T>A
p.(Trp356Arg) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
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
2137
<1
<1
Severe
-
Germany
-
Wulff et al (1999)
2138
-
-
-
Germany
-
Wulff and Herrmann (1999)
2139
<1
-
Severe
-
Germany
-
Wulff et al (2001)
  c.1066T>C
p.(Trp356Arg) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
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
2140
<1
86
Severe
II
-
Centre B21 (unpublished)
  c.1066T>G
p.(Trp356Gly) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1066
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
2141
<1
-
Severe
-
Italy
-
Belvini et al (2005)
2143
<1
-
Severe
-
-
Centre B36 (unpublished)
  c.1067G>A
p.(Trp356*) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
3788
<1
-
Severe
-
Spain
-
Montejo et al (1999)
3789
<1
-
Severe
-
Spain
-
Montejo et al (1999)
2145
<1
-
Severe
-
United States
-
Li et al (2000)
2146
<1
-
Severe
-
United States
-
Li et al (2000)
2147
<1
-
Severe
-
Spain
-
Montejo et al (1999)
3696
-
-
Severe
-
NO
United States
-
Miller et al (2012)
4622
2
Moderate
United States
Johnsen et al (2017)
4623
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1067G>T
p.(Trp356Leu) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
8
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
2148
14
-
Mild
-
-
Centre B9 (unpublished)
2149
7
-
Mild
-
-
Centre B13 (unpublished)
2150
7
-
Mild
-
Germany
-
Wulff et al (2001)
2151
4
90
Moderate
II
-
Centre B14 (unpublished)
2152
-
-
-
Germany
-
Wulff et al (2001)
2153
-
-
-
Germany
-
Wulff and Herrmann (1999)
2154
4
-
Moderate
-
-
Centre B18 (unpublished)
4393
8
Mild
NO
United States
Johnsen et al (2017)
  c.1067G>C
p.(Trp356Ser) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1067
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
2155
<1
12
Severe
II
India
-
Quadros et al, (2009)
  c.1068G>A
p.(Trp356*) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
Variant Effect:
Nonsense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
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
2156
<1
<1
Severe
-
United States
-
Tarnower and Smith (1991)
2157
<1
-
Severe
-
New Zealand
-
Van de Water et al (1996)
2158
<1
<1
Severe
-
United States
-
Wang et al (1990)
  c.1068_1069delinsAA
p.(Trp356*) Legacy AA 310
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1068
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
No. of cases reported:
1
No. of bases:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Indel | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
4798
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1068G>C
p.(Trp356Cys) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
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
2159
<1
5
Severe
II
United States
-
Ketterling et al (1993A)
2160
3
-
Moderate
-
Germany
-
Knobloch et al (1993)
  c.1068G>T
p.(Trp356Cys) Legacy AA 310
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1068
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
2161
<1
-
Severe
-
Germany
-
Wulff et al (1995)
3501
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
  1. «
  2. 1
  3. »
© Copyright 2010-2022, EAHAD. No part of this site may be copied or used in any way without permission. Hosted at MDSAS.