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

F8
Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 3 unique variants retrieved

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  c.446C>G
p.(Pro149Arg) (Legacy AA No.130)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
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.446C>T
p.(Pro149Leu) (Legacy AA No.130)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCT > CTT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.446delC
p.(Pro149Leufs*12) (Legacy AA No.130)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 4
No of bases:
1
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 4
Individual Case Information : Show
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