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: 3 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1254delA
p.(Val419Trpfs*7) Legacy AA 373
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1254
Variant Effect:
Frameshift
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 (Deletion | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3550
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.1256T>A
p.(Val419Glu) Legacy AA 373
Variant Type:
Point
Domain:
Serine protease
cDNA number:
1256
Variant Effect:
Missense
Location:
Exon(8)
CpG:
No. of cases reported:
2
No. of bases:
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
2634
1
1
Moderate
I
France
-
Aguilar-Martinez et al (1994A)
2635
<1
-
Severe
-
-
Centre B30 (unpublished)
  c.1256T>G
p.(Val419Gly) Legacy AA 373
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1256
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
3709
-
-
Moderate
-
NO
United States
-
Miller et al (2012)
4468
<1
Severe
NO
United States
Johnsen et al (2017)
4469
<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.