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


  c.5335G>A
p.(Gly1779Arg) (Legacy AA No.1760)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGG > AGG
Variant Effect:
Missense
Location:
Exon 15
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.5335G>C
p.(Gly1779Arg) (Legacy AA No.1760)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGG > CGG
Variant Effect:
Missense
Location:
Exon 15
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.5336A>G
p.(Gly1779Glu) (Legacy AA No.1760)
Variant Type:
Point
Domain:
A3
Sequence Context:
GGG > GAG
Variant Effect:
Missense
Location:
Exon 15
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.5337delG
p.(Gly1779Glyfs*4) (Legacy AA No.1760)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 15
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 15
Individual Case Information : Show