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Factor IX Gene (F9) Variant Database  

F9
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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

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  2. 1
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  c.517G>A
p.(Ala173Thr) Legacy AA 127
Variant Type:
Point
Domain:
Linker
cDNA number:
517
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
999
-
-
-
-
Centre B32 (unpublished)
  c.518_520del
p.(Ala173del) Legacy AA 127
Variant Type:
Deletion
Domain:
Linker
cDNA number:
518
Variant Effect:
Inframe
Location:
Exon(5)
CpG:
N
No. of cases reported:
1
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 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3097
<1
-
Severe
-
Tunisia
-
Elmahmoudi et al (2011)
  c.518C>T
p.(Ala173Val) Legacy AA 127
Variant Type:
Point
Domain:
Linker
cDNA number:
518
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
1000
<1
<1
Severe
-
Taiwan
-
Lin and Shen (1993)
1001
<1
<10
Severe
-
-
Centre B14 (unpublished)
4036
<1
Severe
NO
United States
Johnsen et al (2017)
  c.519A>C
p.(Ala173Ala) Legacy AA 127
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of cases reported:
3
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 | Silent) of variant at Exon 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1002
-
-
-
-
Centre B18 (unpublished)
1003
2
-
Moderate
-
-
Centre B38 (unpublished)
4672
5
Moderate
NO
United States
Johnsen et al (2017)
  c.519A>G
p.(Ala173Ala) Legacy AA 127
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
Location:
Exon(5)
CpG:
N
No. of cases reported:
5
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 | Silent) of variant at Exon 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1004
-
-
-
-
Centre B18 (unpublished)
1005
-
-
-
-
Centre B39 (unpublished)
1006
-
-
-
Germany
-
Wulff et al (2001)
1007
-
-
-
-
Centre B21 (unpublished)
1008
-
-
-
-
Centre B39 (unpublished)
  c.519A>T
p.(Ala173Ala) Legacy AA 127
Variant Type:
Point
Domain:
Linker
cDNA number:
519
Variant Effect:
Silent
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 (Point | Silent) of variant at Exon 5.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1009
-
-
-
-
Centre B18 (unpublished)
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