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


  c.394G>T
p.(Glu132*) (Legacy AA No.113)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 4
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 4
Individual Case Information : Show

  c.395A>C
p.(Glu132Ala) (Legacy AA No.113)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GCA
Variant Effect:
Missense
Location:
Exon 4
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

  c.396A>C
p.(Glu132Asp) (Legacy AA No.113)
Variant Type:
Polymorphism
Domain:
A1
Sequence Context:
GAA > GAC
Variant Effect:
Non-Synonymous
Location:
Exon 4
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Polymorphism | Non-Synonymous) of mutation at Exon 4
Individual Case Information : Show

  c.396A>C
p.(Glu132Asp) (Legacy AA No.113)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAA > GAC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show