EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.5551T>C
p.(Cys1851Arg) (Legacy AA No.1832)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > CGC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5553C>A
p.(Cys1851*) (Legacy AA No.1832)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGC > TGA
Variant Effect:
Nonsense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 16
Individual Case Information : Show