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


  c.4999delC
p.(Arg1667Glyfs*3) (Legacy AA No.1648)
Variant Type:
Deletion
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Deletion | Frameshift) of mutation at Exon 14
Individual Case Information : Show

  c.5000G>A
p.(Arg1667Gln) (Legacy AA No.1648)
Variant Type:
Point
Domain:
B
Sequence Context:
CGG > CAG
Variant Effect:
Missense
Location:
Exon 14
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