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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 7 unique variants retrieved

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  c.721C>T
p.(Gln241*) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
721
Variant Effect:
Nonsense
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 (Point | Nonsense) of variant at Exon 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1664
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.721C>A
p.(Gln241Lys) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
721
Variant Effect:
Missense
Location:
Exon(6)
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
1386
2
-
Moderate
-
-
Centre B24 (unpublished)
1387
-
-
-
Turkey
-
Onay et al (2003)
  c.722A>G
p.(Gln241Arg) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
722
Variant Effect:
Missense
Location:
Exon(6)
CpG:
N
No. of cases reported:
4
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
1388
<1
-
Severe
-
-
Centre B18 (unpublished)
1390
<1
<1
Severe
-
-
Centre B23 (unpublished)
4090
2
Moderate
NO
United States
Johnsen et al (2017)
4091
1
Moderate
NO
United States
Johnsen et al (2017)
  c.722delA
p.(Gln241Argfs*4) Legacy AA 195
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
722
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 (Deletion | Frameshift) of variant at Exon 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1389
-
-
Severe
-
China
-
Liu et al (2000)
  c.723G>A
p.(Gln241Gln) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of cases reported:
7
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 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1391
<1
<1
Sporadic
Severe
-
United States
-
Chen et al (1995)
1392
2
2
Moderate
I
-
Centre B38 (unpublished)
1393
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
1395
-
-
Severe
-
Germany
-
Wulff et al (1995)
4673
2
Moderate
NO
United States
Johnsen et al (2017)
4674
2
Moderate
NO
United States
Johnsen et al (2017)
4675
<1
Severe
NO
United States
Johnsen et al (2017)
  c.723G>C
p.(Gln241His) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Missense
Location:
Exon(6)
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
3779
<1
<1
Severe
-
Spain
-
Montejo et al (1999)
1394
<1
-
Severe
-
-
Centre B9 (unpublished)
1396
<1
<1
Severe
-
Spain
-
Montejo et al (1999)
  c.723G>T
p.(Gln241His) Legacy AA 195
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
723
Variant Effect:
Missense
Location:
Exon(6)
CpG:
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
4753
<1
Severe
NO
United States
Johnsen et al (2017)
4754
<1
Severe
NO
United States
Johnsen et al (2017)
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