EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.367T>C
p.(Ser123Pro) (Legacy AA No.104)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon 3
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.368C>G
p.(Ser123Cys) (Legacy AA No.104)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCC > TGC
Variant Effect:
Missense
Location:
Exon 3
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.367_390del
p.(Val123_Gly130del) (Legacy AA No.104)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 3
No of bases:
23
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 3
Individual Case Information : Show