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F9
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Data Display Options:
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MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 8 unique variants retrieved

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  2. 1
  3. »
  c.234dup
p.(Glu79*) Legacy AA 33
Variant Type:
Duplication
Domain:
Gla
cDNA number:
234
Variant Effect:
Frameshift
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 (Duplication | Frameshift) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
541
<1
-
Severe
-
United Kingdom
-
Haris et al (1994)
  c.235G>C
p.(Glu79Gln) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
235
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
3450
0
-
Severe
-
NO
Italy
-
Belvini et al (2005)
  c.235_236insGG
p.(Glu79Glyfs*26) Legacy AA 33
Variant Type:
Insertion
Domain:
Gla
cDNA number:
235
Variant Effect:
Frameshift
Location:
Exon(2)
CpG:
N
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 (Insertion | Frameshift) of variant at Exon 2.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2910
-
-
-
United Kingdom
-
Saad et al (1994)
  c.235G>A
p.(Glu79Lys) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
235
Variant Effect:
Missense
Location:
Exon(2)
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
535
-
-
-
-
Centre B39 (unpublished)
537
<1
-
Severe
-
United Kingdom
-
Enayat et al (2004)
538
-
-
Severe
-
Italy
-
Belvini et al (2005)
539
-
-
Severe
-
Italy
-
Belvini et al (2005)
  c.236A>C
p.(Glu79Ala) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
236
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
543
5.57
-
Moderate
-
China
-
Liu et al (2000)
3571
-
-
Moderate
-
NO
China
-
Yu et al (2012)
3902
<1
Severe
NO
United States
Johnsen et al (2017)
  c.236A>G
p.(Glu79Gly) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
236
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
544
1
-
Moderate
-
-
Centre B39 (unpublished)
  c.236A>T
p.(Glu79Val) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
236
Variant Effect:
Missense
Location:
Exon(2)
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
4740
3
Moderate
NO
United States
Johnsen et al (2017)
  c.237A>C
p.(Glu79Asp) Legacy AA 33
Variant Type:
Point
Domain:
Gla
cDNA number:
237
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
545
4
-
Moderate
-
United States
-
Koeberl et al (1989)
546
-
-
-
-
Centre B39 (unpublished)
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