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: 2 unique variants retrieved

  1. «
  2. 1
  3. »

  c.5665C>T
p.(Gln1889*) (Legacy AA No.1870)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAA > TAA
Variant Effect:
Nonsense
Location:
Exon 17
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 (Point | Nonsense) of mutation at Exon 17
Individual Case Information : Show

  c.5667A>T
p.(Gln1889His) (Legacy AA No.1870)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAA > CAT
Variant Effect:
Missense
Location:
Exon 17
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
  1. «
  2. 1
  3. »