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


  c.358delGinsTT
p.(Val120Phefs*9) (Legacy AA No.101)
Variant Type:
Indel
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
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 (Indel | Frameshift) of mutation at Exon 3
Individual Case Information : Show

  c.359T>C
p.(Val120Ala) (Legacy AA No.101)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTT > GCT
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.359T>A
p.(Val120Asp) (Legacy AA No.101)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTT > GAT
Variant Effect:
Missense
Location:
Exon 3
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.360delT
p.(Val120Valfs*41) (Legacy AA No.101)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 3
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 3
Individual Case Information : Show