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


  c.2033_2036dupAACA
p.(His679Glnfs*7) (Legacy AA No.660)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
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 13
Individual Case Information : Show

  c.2035_2040delCACAAA
p.(His679_Lys680del) (Legacy AA No.660)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 13
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 (Deletion | Inframe) of mutation at Exon 13
Individual Case Information : Show

  c.2036A>C
p.(His679Pro) (Legacy AA No.660)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAC > CCC
Variant Effect:
Missense
Location:
Exon 13
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.2037C>A
p.(His679Gln) (Legacy AA No.660)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAC > CAA
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
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