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


  c.5392dupG
p.(Ala1798Glyfs*10) (Legacy AA No.1779)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 16
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 16
Individual Case Information : Show

  c.5392G>C
p.(Ala1798Pro) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > CCC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5392G>T
p.(Ala1798Ser) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > TCC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5392G>A
p.(Ala1798Thr) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > ACC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
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.5393C>T
p.(Ala1798Val) (Legacy AA No.1779)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon 16
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