EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.1450T>G
p.(Phe484Val) (Legacy AA No.465)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTT > GTT
Variant Effect:
Missense
Location:
Exon 10
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.1451T>G
p.(Phe484Cys) (Legacy AA No.465)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTT > TGT
Variant Effect:
Missense
Location:
Exon 10
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