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Search Results: 8 unique variants retrieved

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  c.1229_1232dup
p.(Ser411Argfs*2) Legacy AA 365
Variant Type:
Duplication
Domain:
Serine Protease
cDNA number:
1229
Variant Effect:
Frameshift
Location:
Exon(8)
CpG:
N
No. of cases reported:
2
No. of bases:
4
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2940
<1
<1
Sporadic
Severe
-
United States
-
Thompson and Chen (1994)
4684
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1230_1231delinsCG
p.(Ser411Gly) Legacy AA 365
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1230
Variant Effect:
Inframe
Location:
Exon(8)
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 (Indel | Inframe) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2581
<1
89
Severe
II
YES
Germany
-
Ludwig et al (1992B)
  c.1231A>G
p.(Ser411Gly) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1231
Variant Effect:
Missense
Location:
Exon(8)
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
2582
<1
12
Severe
II
-
Centre B38 (unpublished)
2583
-
-
-
-
Centre B18 (unpublished)
4455
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1232G>A
p.(Ser411Asn) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Missense
Location:
Exon(8)
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
2584
<1
-
Severe
-
Germany
-
Wulff et al (2001)
2585
2
-
Moderate
-
Denmark
-
Nielsen et al (1995)
  c.1232G>T
p.(Ser411Ile) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Missense
Location:
Exon(8)
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
2586
<1
-
Severe
-
Germany
-
Ludwig et al (1992B)
2671
1.8
-
Moderate
-
United Kingdom
-
Saad et al (1994)
4456
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1232_1234delGTGinsTT
p.(Ser411Ilefs*15) Legacy AA 365
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1232
Variant Effect:
Frameshift
Location:
Exon(8)
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 (Indel | Frameshift) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
2961
<1
-
Severe
-
United States
-
Li et al (2000)
  c.1233T>A
p.(Ser411Arg) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1233
Variant Effect:
Missense
Location:
Exon(8)
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
2587
1
90
Moderate
II
United States
-
Koeberl et al (1990B)
  c.1233T>G
p.(Ser411Arg) Legacy AA 365
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1233
Variant Effect:
Missense
Location:
Exon(8)
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
2588
<1
100
Severe
II
-
Lin and Shen (1993)
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