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

F8
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Search Results: 2 unique variants retrieved

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  c.1654T>C
p.(Tyr552His) (Legacy AA No.533)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > CAC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1656C>A
p.(Tyr552*) (Legacy AA No.533)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAA
Variant Effect:
Nonsense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 11
Individual Case Information : Show
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