EAHAD Factor VIII Variant Database
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Search Results: 6 unique variants retrieved


  c.898_901dup
p.(Arg301Profs*38) (Legacy AA No.282)
Variant Type:
Duplication
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 7
Individual Case Information : Show

  c.901C>T
p.(Arg301Cys) (Legacy AA No.282)
Variant Type:
Point
Domain:
A1
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
32
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.901C>A
p.(Arg301Ser) (Legacy AA No.282)
Variant Type:
Point
Domain:
A1
Sequence Context:
CGC > AGC
Variant Effect:
Missense
Location:
Exon 7
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.902G>A
p.(Arg301His) (Legacy AA No.282)
Variant Type:
Point
Domain:
A1
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
43
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.902G>T
p.(Arg301Leu) (Legacy AA No.282)
Variant Type:
Point
Domain:
A1
Sequence Context:
CGC > CTC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.902G>C
p.(Arg301Pro) (Legacy AA No.282)
Variant Type:
Point
Domain:
A1
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 7
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