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


  c.524A>G
p.(Tyr175Cys) (Legacy AA No.156)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.524A>C
p.(Tyr175Ser) (Legacy AA No.156)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TCC
Variant Effect:
Missense
Location:
Exon 4
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.525C>A
p.(Tyr175*) (Legacy AA No.156)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon 4
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 4
Individual Case Information : Show