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


  c.5413T>A
p.(Tyr1805Asn) (Legacy AA No.1786)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > AAT
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.5414A>G
p.(Tyr1805Cys) (Legacy AA No.1786)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5414A>C
p.(Tyr1805Ser) (Legacy AA No.1786)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TCT
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5415T>A
p.(Tyr1805*) (Legacy AA No.1786)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 16
Individual Case Information : Show