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

F8
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Search Results: 3 unique variants retrieved

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  c.5878C>T
p.(Arg1960*) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 18
No of bases:
1
No. of cases reported:
32
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 18
Individual Case Information : Show

  c.5879G>A
p.(Arg1960Gln) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
39
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5879G>T
p.(Arg1960Leu) (Legacy AA No.1941)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CTA
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show
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