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.6370_6379delTATAGTCTTG
p.(Tyr2124Metfs*16) (Legacy AA No.2105)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
10
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 22
Individual Case Information : Show

  c.6371A>G
p.(Tyr2124Cys) (Legacy AA No.2105)
Variant Type:
Point
Domain:
C1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
36
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. »