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: 4 unique variants retrieved

  1. «
  2. 1
  3. »

  c.991_992delAT
p.(Ile331Leufs*6) (Legacy AA No.312)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
No of bases:
2
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 7
Individual Case Information : Show

  c.991A>T
p.(Ile331Phe) (Legacy AA No.312)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > TTC
Variant Effect:
Missense
Location:
Exon 7
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.992T>G
p.(Ile331Ser) (Legacy AA No.312)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > AGC
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.992T>C
p.(Ile331Thr) (Legacy AA No.312)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATC > ACC
Variant Effect:
Missense
Location:
Exon 7
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
  1. «
  2. 1
  3. »