EAHAD Factor VIII Variant Database
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Search Results: 7 unique variants retrieved


  c.5542G>A
p.(Glu1848Lys) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5542delG
p.(Glu1848Serfs*23) (Legacy AA No.1829)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 (Deletion | Frameshift) of mutation at Exon 16
Individual Case Information : Show

  c.5543A>C
p.(Glu1848Ala) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GCG
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5543_5552del
p.(Glu1848Alafs*20) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
>
Variant Effect:
Nonsense
Location:
Exon 16
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 16
Individual Case Information : Show

  c.5543A>G
p.(Glu1848Gly) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GGG
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5543A>T
p.(Glu1848Val) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GTG
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5544G>C
p.(Glu1848Asp) (Legacy AA No.1829)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GAC
Variant Effect:
Missense
Location:
Exon 16
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