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

F8
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Search Results: 2 unique variants retrieved

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  c.6325_6326delCG
p.(Arg2109Serfs*15) (Legacy AA No.2090)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 22
Individual Case Information : Show

  c.6325C>T
p.(Arg2109Cys) (Legacy AA No.2090)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGT > TGT
Variant Effect:
Missense
Location:
Exon 22
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
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