EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.5145_5152dupACACTATT
p.(Phe1718Tyrfs*16) (Legacy AA No.1699)
Variant Type:
Duplication
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 | Frameshift) of mutation at Exon 14
Individual Case Information : Show

  c.5154T>A
p.(Phe1718Leu) (Legacy AA No.1699)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTT > TTA
Variant Effect:
Missense
Location:
Exon 14
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