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


  c.2609C>G
p.(Pro870Arg) (Legacy AA No.851)
Variant Type:
Point
Domain:
B
Sequence Context:
CCT > CGT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2609_2610delCT
p.(Pro870Argfs*10) (Legacy AA No.851)
Variant Type:
Deletion
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
No of bases:
2
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 14
Individual Case Information : Show

  c.2610delT
p.(Pro870Profs*7) (Legacy AA No.851)
Variant Type:
Deletion
Domain:
B
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 14
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 (Deletion | Frameshift) of mutation at Exon 14
Individual Case Information : Show