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


  c.952_953delCT
p.(Leu318Leufs*19) (Legacy AA No.299)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7
Individual Case Information : Show

  c.953T>C
p.(Leu318Pro) (Legacy AA No.299)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTC > CCC
Variant Effect:
Missense
Location:
Exon 7
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.953delT
p.(Leu318Profs*2) (Legacy AA No.299)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 7
Individual Case Information : Show