EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.775A>G
p.(Arg259Gly ) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > GGG
Variant Effect:
Missense
Location:
Exon 6
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.775A>T
p.(Arg259Trp) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > TGG
Variant Effect:
Missense
Location:
Exon 6
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.776G>C
p.(Arg259Thr) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > ACG
Variant Effect:
Missense
Location:
Exon 6
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.777G>T
p.(Arg259Ser) (Legacy AA No.240)
Variant Type:
Point
Domain:
A1
Sequence Context:
AGG > AGT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show