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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 4 unique variants retrieved

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  c.1242_1244delinsAAT
p.(His415Ile) Legacy AA 369
Variant Type:
Indel
Domain:
Serine Protease
cDNA number:
1242
Variant Effect:
Inframe
Location:
Exon(8)
CpG:
N
No. of cases reported:
1
No. of bases:
-
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
2629
<1
-
Severe
-
United States
-
Ketterling et al (1999B)
  c.1243C>A
p.(His415Asn) Legacy AA 369
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1243
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
2630
<1
-
Severe
-
United States
-
Odom et al (1994)
3624
-
-
Moderate
-
NO
China
-
Yu et al (2012)
  c.1244A>G
p.(His415Arg) Legacy AA 369
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1244
Variant Effect:
Missense
Location:
Exon(8)
CpG:
N
No. of cases reported:
7
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
2631
<3
-
-
India
-
Mukherjee et al (2004)
2632
<1
<1
Severe
-
United States
-
Bottema et al (1990C)
3510
<1
-
Familial
Severe
-
NO
Argentina
-
Radic et al (2013)
4463
2
Moderate
United States
Johnsen et al (2017)
4464
<1
Severe
NO
United States
Johnsen et al (2017)
4465
<1
Severe
NO
United States
Johnsen et al (2017)
4466
<1
Severe
NO
United States
Johnsen et al (2017)
  c.1245T>A
p.(His415Gln) Legacy AA 369
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1245
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
2633
5
60
Moderate
II
-
Centre B38 (unpublished)
3471
<1
-
Severe
-
NO
India
-
Jayandharan et al (2009)
4467
<1
Severe
NO
United States
Johnsen et al (2017)
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