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


  c.6133G>C
p.(Gly2045Arg) (Legacy AA No.2026)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 20
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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  c.6133G>A
p.(Gly2045Arg) (Legacy AA No.2026)
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.6134G>A
p.(Gly2045Glu) (Legacy AA No.2026)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 20
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.6134G>T
p.(Gly2045Val) (Legacy AA No.2026)
Variant Type:
Point
Domain:
C1
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 20
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.6133G>T
p.(Gly2045*) (Legacy AA No.2026)
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