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


  c.5407T>C
p.(Ser1803Pro) (Legacy AA No.1784)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCC > CCC
Variant Effect:
Missense
Location:
Exon 16
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.5408_5410dupCCT
p.(Ser1803dup) (Legacy AA No.1784)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Inframe
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 | Inframe) of mutation at Exon 16
Individual Case Information : Show

  c.5408C>T
p.(Ser1803Phe) (Legacy AA No.1784)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCC > TTC
Variant Effect:
Missense
Location:
Exon 16
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.5408C>A
p.(Ser1803Tyr) (Legacy AA No.1784)
Variant Type:
Point
Domain:
A3
Sequence Context:
TCC > TAC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
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