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


  c.1618C>T
p.(Pro540Ser) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > TCA
Variant Effect:
Missense
Location:
Exon 11
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.1618C>A
p.(Pro540Thr) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > ACA
Variant Effect:
Missense
Location:
Exon 11
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.1619C>G
p.(Pro540Arg) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > CGA
Variant Effect:
Missense
Location:
Exon 11
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.1619delC
p.(Pro540Glnfs*9) (Legacy AA No.521)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 11
Individual Case Information : Show

  c.1619C>T
p.(Pro540Leu) (Legacy AA No.521)
Variant Type:
Point
Domain:
A2
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 11
No of bases:
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