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.109G>A
p.(Ala37Thr) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
109
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
1.12E-5
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
146
-
-
-
Germany
-
Oldenburg et al (1997)
147
-
-
-
United States
-
Chu et al (1996)
  c.110C>A
p.(Ala37Asp) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
110
Variant Effect:
Missense
Location:
Exon(2)
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
149
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.110C>T
p.(Ala37Val) Legacy AA -10
Variant Type:
Point
Domain:
Pro-Peptide
cDNA number:
110
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
2
No. of bases:
1
Allele Frequency (MAF):
9.9E-6
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
148
-
-
-
Germany
-
Oldenburg et al (1997)
150
-
-
-
Germany
-
Oldenburg et al (1997)
  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.