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Factor IX Gene (F9) Variant Database  

F9
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Data Display Options:
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Search Results: 2 unique variants retrieved

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  c.580G>A
p.(Ala194Thr) Legacy AA 148
Variant Type:
Polymorphism
Domain:
Act-Peptide
cDNA number:
580
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
3404
-
-
-
India
-
Jayandharan et al (2003)
3405
-
-
-
India
-
Jayandharan et al (2003)
  c.580A>G
p.(Thr194Ala) Legacy AA 148
Variant Type:
Polymorphism
Domain:
Act-Peptide
cDNA number:
580
Variant Effect:
Silent
Location:
Exon(6)
CpG:
N
No. of cases reported:
1
No. of bases:
1
Allele Frequency (MAF):
0.2183449
Molecular Graphics and Amino-acid Alignments
Structural Analysis is only available for missense variants and cannot be performed for this type (Polymorphism | Silent) of variant at Exon 6.
Individual Case Information : Show
Case ID
FIX:C(%)
FIX:Ag(%)
Inheritance
Severity
Type
Inhibitors
Reporting Centre
Comments
Reference
3403
-
-
-
United States
-
McGraw et al (1985)
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