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

F8
Data Display Options:
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MULTIPLE (With Case Data) :
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SCREEN TABLE



Search Results: 2 unique variants retrieved

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  c.1748A>G
p.(Asn583Ser) (Legacy AA No.564)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > AGC
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1748delA
p.(Asn583Thrfs*3) (Legacy AA No.564)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 11
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 11
Individual Case Information : Show
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