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: 7 unique variants retrieved

  1. «
  2. 1
  3. »
  c.837dup
p.(Gly280Argfs*2) Legacy AA 234
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
837
Variant Effect:
Frameshift
Location:
Exon(7)
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 (Duplication | Frameshift) of variant at Exon 7.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2926
<1
<1
Severe
-
France
-
Ghanem et al (1993)
  c.838G>C
p.(Gly280Arg) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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
1583
<1
<1
Severe
-
-
Centre B20 (unpublished)
1584
2
-
Moderate
-
-
Centre B13 (unpublished)
3439
0
-
Severe
-
NO
Italy
-
Belvini et al (2005)
  c.838G>T
p.(Gly280Cys) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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
3545
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.838G>A
p.(Gly280Ser) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
838
Variant Effect:
Missense
Location:
Exon(7)
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
1580
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.839G>C
p.(Gly280Ala) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
1585
17
-
Mild
-
-
Centre B30 (unpublished)
  c.839G>A
p.(Gly280Asp) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
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
1589
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
3674
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
  c.839G>T
p.(Gly280Val) Legacy AA 234
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
839
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
4
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
1586
<1
-
Severe
-
-
Centre B39 (unpublished)
1587
2
-
Moderate
-
-
Centre B39 (unpublished)
1588
<1
<1
Severe
-
United States
-
Weinmann et al (1998)
4120
<1
Severe
NO
United States
Johnsen et al (2017)
  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.