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


  c.1762_1777dup
p.(Ile593Argfs*12) (Legacy AA No.574)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 12
No of bases:
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 12
Individual Case Information : Show

  c.1778T>A
p.(Ile593Asn) (Legacy AA No.574)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATC > AAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
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

  c.1778T>C
p.(Ile593Thr) (Legacy AA No.574)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATC > ACC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
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