EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
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MULTIPLE (With Case Data) :
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Search Results: 3 unique variants retrieved


  c.5471A>T
p.(Asn1824Ile) (Legacy AA No.1805)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAC > ATC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5471dupA
p.(Asn1824Lysfs*5) (Legacy AA No.1805)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 16
Individual Case Information : Show

  c.5471delA
p.(Asn1824Thrfs*47) (Legacy AA No.1805)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 16
Individual Case Information : Show