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: 6 unique variants retrieved

  1. «
  2. 1
  3. »
  c.427C>T
p.(Gln143*) Legacy AA 97
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
Variant Effect:
Nonsense
Location:
Exon(5)
CpG:
N
No. of cases reported:
2
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
874
-
-
Severe
-
United States
-
Li et al (2000)
4579
4
Moderate
NO
United States
Johnsen et al (2017)
  c.427C>G
p.(Gln143Glu) Legacy AA 97
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
Variant Effect:
Missense
Location:
Exon(5)
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
877
<1
<1
Severe
-
France
-
Tartary et al (1993)
878
2
-
Moderate
-
Italy
-
Belvini et al (2005)
3578
-
-
Sporadic
Severe
-
NO
China
-
Yu et al (2012)
  c.427C>A
p.(Gln143Lys) Legacy AA 97
Variant Type:
Point
Domain:
EGF2
cDNA number:
427
Variant Effect:
Missense
Location:
Exon(5)
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
875
<1
-
Severe
-
South Korea
-
Kwon et al (2008)
876
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.428A>G
p.(Gln143Arg) Legacy AA 97
Variant Type:
Point
Domain:
EGF2
cDNA number:
428
Variant Effect:
Missense
Location:
Exon(5)
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
880
<1
<1
Severe
-
India
-
Quadros et al, (2009)
881
<1
-
Severe
I
India
-
Ghosh et al (2009)
  c.428A>C
p.(Gln143Pro) Legacy AA 97
Variant Type:
Point
Domain:
EGF2
cDNA number:
428
Variant Effect:
Missense
Location:
Exon(5)
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
879
-
-
-
-
Centre B18 (unpublished)
  c.429delG
p.(Gln143Hisfs*60) Legacy AA 97
Variant Type:
Deletion
Domain:
EGF2
cDNA number:
429
Variant Effect:
Frameshift
Location:
Exon(5)
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
882
<1
<1
Severe
-
Taiwan
-
Lin and Shen (1993)
  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.