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


  c.5674G>A
p.(Val1892Ile) (Legacy AA No.1873)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTA > ATA
Variant Effect:
Missense
Location:
Exon 17
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.5674delG
p.(Val1892Tyrfs*53) (Legacy AA No.1873)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
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 (Deletion | Frameshift) of mutation at Exon 17
Individual Case Information : Show

  c.5675delT
p.(Val1892Aspfs*53) (Legacy AA No.1873)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
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 (Deletion | Frameshift) of mutation at Exon 17
Individual Case Information : Show

  c.5675T>G
p.(Val1892Gly) (Legacy AA No.1873)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTA > GGA
Variant Effect:
Missense
Location:
Exon 17
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