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


  c.1335dupC
p.(Arg446Profs*8) (Legacy AA No.427)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
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 (Duplication | Frameshift) of mutation at Exon 9
Individual Case Information : Show

  c.1336C>T
p.(Arg446*) (Legacy AA No.427)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 9
No of bases:
1
No. of cases reported:
33
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 9
Individual Case Information : Show

  c.1336C>G
p.(Arg446Gly) (Legacy AA No.427)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 9
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.1337G>A
p.(Arg446Gln) (Legacy AA No.427)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1337G>C
p.(Arg446Pro) (Legacy AA No.427)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGA > CCA
Variant Effect:
Missense
Location:
Exon 9
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