EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.6187G>T
p.(Gly2063*) (Legacy AA No.2044)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > TGA
Variant Effect:
Nonsense
Location:
Exon 20
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 (Point | Nonsense) of mutation at Exon 20
Individual Case Information : Show

  c.6187G>A
p.(Gly2063Arg) (Legacy AA No.2044)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 20
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.6187_6191delGGACA
p.(Gly2063Valfs*61) (Legacy AA No.2044)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 20
No of bases:
5
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 20
Individual Case Information : Show

  c.6188-1G>C
(Legacy AA No.2044)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 20
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 20
Individual Case Information : Show

  c.6188-1G>A
(Legacy AA No.2044)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Splice
Location:
Intron 20
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 (Point | Splice) of mutation at Intron 20
Individual Case Information : Show