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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: 4 unique variants retrieved

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  c.684dup
p.(Gly229fsTrp*19) Legacy AA 183
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
684
Variant Effect:
Frameshift
Location:
Exon(6)
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 (Duplication | Frameshift) of variant at Exon 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2923
3
-
Moderate
-
United States
-
Li et al (2000)
  c.685G>A
p.(Gly229Ser) Legacy AA 183
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
685
Variant Effect:
Missense
Location:
Exon(6)
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
1322
-
-
-
-
Centre B21 (unpublished)
1323
13
-
Mild
-
Denmark
-
Nielsen et al (1995)
1324
<1
100
Sporadic
Severe
II
United States
conference abstract
Thompson et al (1992B)
1325
-
-
-
-
Centre B36 (unpublished)
4082
8
Mild
NO
United States
Johnsen et al (2017)
  c.686G>T
p.(Gly229Val) Legacy AA 183
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
686
Variant Effect:
Missense
Location:
Exon(6)
CpG:
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
4749
<1
Severe
NO
United States
Johnsen et al (2017)
  c.687_689delTGG
p.(Gly229del) Legacy AA 183
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
687
Variant Effect:
Inframe
Location:
Exon(6)
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 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3110
<1
97
Severe
II
United Kingdom
-
Saad et al (1994)
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