EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.1750delC
p.(Gln584Argfs*2) (Legacy AA No.565)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 11
Individual Case Information : Show

  c.1750C>A
p.(Gln584Lys) (Legacy AA No.565)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAG > AAG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1751A>G
p.(Gln584Arg) (Legacy AA No.565)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAG > CGG
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1752G>T
p.(Gln584His) (Legacy AA No.565)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAG > CAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1752+3insG
(Legacy AA No.565)
Variant Type:
Insertion
Domain:
A2
Sequence Context:
Variant Effect:
Splice
Location:
Intron 11
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 (Insertion | Splice) of mutation at Intron 11
Individual Case Information : Show