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


  c.1491dupC
p.(Gly498Argfs*4) (Legacy AA No.479)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 10
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 (Duplication | Frameshift) of mutation at Exon 10
Individual Case Information : Show

  c.1492G>T
p.(Gly498*) (Legacy AA No.479)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > TGA
Variant Effect:
Nonsense
Location:
Exon 10
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 | Nonsense) of mutation at Exon 10
Individual Case Information : Show

  c.1492G>C
p.(Gly498Arg) (Legacy AA No.479)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > CGA
Variant Effect:
Missense
Location:
Exon 10
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.1492G>A
p.(Gly498Arg) (Legacy AA No.479)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
43
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show