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


  c.5142_5144delACG
p.(Arg1715del) (Legacy AA No.1696)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 14
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 14
Individual Case Information : Show

  c.5143C>T
p.(Arg1715*) (Legacy AA No.1696)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 14
No of bases:
1
No. of cases reported:
23
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 14
Individual Case Information : Show

  c.5143C>G
p.(Arg1715Gly) (Legacy AA No.1696)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 14
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.5144G>A
p.(Arg1715Gln) (Legacy AA No.1696)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5144G>C
p.(Arg1715Pro) (Legacy AA No.1696)
Variant Type:
Point
Domain:
A3
Sequence Context:
CGA > CCA
Variant Effect:
Missense
Location:
Exon 14
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