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: 4 unique variants retrieved

  1. «
  2. 1
  3. »
  c.1129G>T
p.(Val377Phe) Legacy AA 331
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1129
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
2243
<1
<10
Severe
-
NO
France
-
Attali et al (1999)
3502
<1
-
Sporadic
Severe
-
NO
Argentina
-
Radic et al (2013)
  c.1130T>C
p.(Val377Ala) Legacy AA 331
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1130
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
2245
7
96
Mild
II
United Kingdom
-
Winship and Dragon (1991)
  c.1130T>A
p.(Val377Asp) Legacy AA 331
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1130
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
2244
<1
-
Severe
-
-
Centre B11 (unpublished)
  c.1130_1132delTTG
p.(Val377del) Legacy AA 331
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
1130
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of cases reported:
6
No. of bases:
3
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 | Inframe) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3132
<1
<1
Severe
-
-
Centre B23 (unpublished)
3133
<1
-
Severe
-
Germany
-
Knobloch et al (1993)
3134
<1
-
Severe
-
Germany
-
Wulff et al (2001)
3135
<1
-
Severe
-
-
Centre B39 (unpublished)
3136
-
-
Severe
-
China
-
Liu et al (2000)
3137
<1
-
Severe
-
Spain
-
Vidal et al (2000)
  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.