EAHAD Factor VIII Variant Database
EAHAD Logo

Factor VIII Gene (F8) Variant Database  

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



Search Results: 3 unique variants retrieved


  c.6496C>T
p.(Arg2166*) (Legacy AA No.2147)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 23
No of bases:
1
No. of cases reported:
54
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 23
Individual Case Information : Show

  c.6496C>G
p.(Arg2166Gly) (Legacy AA No.2147)
Variant Type:
Point
Domain:
C1
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
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.6497delG
p.(Arg2166Hisfs*20) (Legacy AA No.2147)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
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 23
Individual Case Information : Show