EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.205_208delCTGT
p.(Leu69Leufs*1) (Legacy AA No.50)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
4
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2
Individual Case Information : Show

  c.205C>G
p.(Leu69Val) (Legacy AA No.50)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > GTG
Variant Effect:
Missense
Location:
Exon 2
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.205_206delCT
p.(Leu69Valfs*13) (Legacy AA No.50)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 2
No of bases:
2
No. of cases reported:
20
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 2
Individual Case Information : Show

  c.206T>C
p.(Leu69Pro) (Legacy AA No.50)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon 2
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show