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.172G>A
p.(Gly58Arg) Legacy AA 12
Variant Type:
Point
Domain:
Gla
cDNA number:
172
Variant Effect:
Missense
Location:
Exon(2)
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
370
<1
48
Severe
II
-
Centre B41 (unpublished)
371
13
44
Mild
II
United States
-
Gostout et al (1993)
3880
1.73
Moderate
NO
United States
Johnsen et al (2017)
  c.172G>C
p.(Gly58Arg) Legacy AA 12
Variant Type:
Point
Domain:
Gla
cDNA number:
172
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
3377
<1
-
Severe
I
South Korea
-
Kwon et al (2008)
  c.173G>C
p.(Gly58Ala) Legacy AA 12
Variant Type:
Point
Domain:
Gla
cDNA number:
173
Variant Effect:
Missense
Location:
Exon(2)
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
378
2
-
Moderate
-
Italy
-
Belvini et al (2005)
379
3
97
Moderate
II
China
Patient tested at Hong Kong
Chan et al (1991)
3883
2
Moderate
NO
United States
Johnsen et al (2017)
  c.173G>A
p.(Gly58Glu) Legacy AA 12
Variant Type:
Point
Domain:
Gla
cDNA number:
173
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
7
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
372
<1
-
Severe
-
United Kingdom
-
Saad et al (1994)
373
25
-
Mild
-
France
-
Costa et al (2000)
374
-
-
-
-
Centre B30 (unpublished)
375
1
104
Moderate
II
NO
France
-
Attali et al (1999)
377
-
-
Mild
-
Italy
-
Belvini et al (2005)
3881
<1
Severe
NO
United States
Johnsen et al (2017)
3882
2
Moderate
NO
United States
Johnsen et al (2017)
  c.173G>T
p.(Gly58Val) Legacy AA 12
Variant Type:
Point
Domain:
Gla
cDNA number:
173
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
381
<1
-
Familial
Severe
-
India
-
Jayandharan et al (2005)
  c.174delG
p.(Gly58Glyfs*46) Legacy AA 12
Variant Type:
Deletion
Domain:
Gla
cDNA number:
174
Variant Effect:
Frameshift
Location:
Exon(2)
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 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
382
<1
<1
Severe
-
Turkey
-
Caglayan et al (1994)
  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.