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


  c.755C>T
p.(Thr252Ile) (Legacy AA No.233)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > ATA
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
17
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.755C>A
p.(Thr252Lys) (Legacy AA No.233)
Variant Type:
Point
Domain:
A1
Sequence Context:
ACA > AAA
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.755_756delCA
p.(Thr252Serfs*31) (Legacy AA No.233)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
No of bases:
2
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 6
Individual Case Information : Show