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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 5 unique variants retrieved

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  c.205T>C
p.(Cys69Arg) Legacy AA 23
Variant Type:
Point
Domain:
Gla
cDNA number:
205
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
5
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
411
<1
35
Severe
II
Taiwan
-
Lin et al (1991)
412
<1
-
Severe
-
Germany
-
Wulff et al (2001)
413
-
-
-
-
Centre B39 (unpublished)
414
<1
20
Severe
II
NO
Italy
-
Bicocchi et al (2006)
3378
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.205T>G
p.(Cys69Gly) Legacy AA 23
Variant Type:
Point
Domain:
Gla
cDNA number:
205
Variant Effect:
Missense
Location:
Exon(2)
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
3432
<1
-
Severe
-
India
-
Jayandharan et al (2009)
3565
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
  c.206_207delGT
p.(Cys69*) Legacy AA 23
Variant Type:
Deletion
Domain:
Gla
cDNA number:
206
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
No. of cases reported:
1
No. of bases:
2
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
4823
<1
Severe
NO
United States
Johnsen et al (2017)
  c.206G>A
p.(Cys69Tyr) Legacy AA 23
Variant Type:
Point
Domain:
Gla
cDNA number:
206
Variant Effect:
Missense
Location:
Exon(2)
CpG:
N
No. of cases reported:
9
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
415
<1
19
Severe
II
United Kingdom
-
Winship & Dragon (1991)
416
<1
45
Severe
II
-
Centre B20 (unpublished)
417
-
-
-
-
Centre B17 (unpublished)
418
-
-
-
-
Centre B39 (unpublished)
419
<1
-
Severe
-
-
Centre B39 (unpublished)
420
-
-
Sporadic
Severe
-
Ireland
-
Jenkins et al (2008)
3566
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3636
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
3637
-
-
Familial
Severe
-
NO
China
-
Yu et al (2012)
  c.207T>A
p.(Cys69*) Legacy AA 23
Variant Type:
Point
Domain:
Gla
cDNA number:
207
Variant Effect:
Nonsense
Location:
Exon(2)
CpG:
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 (Point | Nonsense) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
4783
<1
Severe
United States
Johnsen et al (2017)
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