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F9
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Search Results: 4 unique variants retrieved

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  c.907_909del
p.(His303del) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
907
Variant Effect:
Inframe
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 (Deletion | Inframe) of variant at Exon 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3125
<1
-
Severe
-
-
Centre B30 (unpublished)
  c.907delC
p.(His303Thrfs*23) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
907
Variant Effect:
Frameshift
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1830
<1
<8
Severe
-
Denmark
-
Nielsen et al (1992)
  c.907C>T
p.(His303Tyr) Legacy AA 257
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
907
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
3
No. of bases:
1
Allele Frequency (MAF):
0.0005086
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
1831
30
-
Mild
-
Germany
-
Wulff et al (2001)
1832
-
-
-
-
Centre B38 (unpublished)
1833
<1
<0.1
Severe
-
United Kingdom
Also has p.Arg162* Causative
Montandon et al (1990A)
  c.909delC
p.(His303Glnfs*7) Legacy AA 257
Variant Type:
Deletion
Domain:
Serine Protease
cDNA number:
909
Variant Effect:
Frameshift
Location:
Exon(8)
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 8.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
1834
<1
<6
Severe
-
Germany
-
Wulff et al (1995)
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