EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.421G>T
p.(Glu141*) (Legacy AA No.122)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 4
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 (Point | Nonsense) of mutation at Exon 4
Individual Case Information : Show

  c.421G>C
p.(Glu141Gln) (Legacy AA No.122)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > CAG
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.421G>A
p.(Glu141Lys) (Legacy AA No.122)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show