EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
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Search Results: 3 unique variants retrieved

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  c.1437_1438delAC
p.(Leu480Valfs*5 ) (Legacy AA No.461)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
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 (Deletion | Frameshift) of mutation at Exon 9
Individual Case Information : Show

  c.1438_1439delCT
p.(Leu480fs*2) (Legacy AA No.461)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9
Individual Case Information : Show

  c.1439T>C
p.(Leu480Pro) (Legacy AA No.461)
Variant Type:
Point
Domain:
A2
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon 9
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
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