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

F8
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MULTIPLE (With Case Data) :
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SCREEN TABLE



Search Results: 3 unique variants retrieved


  c.1922_1946del
p.(Asp642_Cys649del) (Legacy AA No.622)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 13
No of bases:
24
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 13
Individual Case Information : Show

  c.1922T>C
p.(Phe641Ser) (Legacy AA No.622)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTT > TCT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1923_1924delTCinsA
p.(Phe641Leufs*18) (Legacy AA No.622)
Variant Type:
Indel
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
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 (Indel | Frameshift) of mutation at Exon 13
Individual Case Information : Show