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Factor IX Gene (F9) Variant Database  

F9
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Search Results: 2 unique variants retrieved

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  c.1123C>A
p.(Pro375Thr) Legacy AA 329
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1123
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
2240
6
-
Mild
-
-
Centre B38 (unpublished)
  c.1124C>T
p.(Pro375Leu) Legacy AA 329
Variant Type:
Point
Domain:
Serine Protease
cDNA number:
1124
Variant Effect:
Missense
Location:
Exon(8)
CpG:
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
4770
24
Mild
YES
United States
Johnsen et al (2017)
4771
20
Mild
NO
United States
Johnsen et al (2017)
4772
20
Mild
NO
United States
Johnsen et al (2017)
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