EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.5410T>A
p.(Phe1804Ile) (Legacy AA No.1785)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > ATC
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.5410T>C
p.(Phe1804Leu) (Legacy AA No.1785)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > CTC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5411T>C
p.(Phe1804Ser) (Legacy AA No.1785)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTC > TCC
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