EAHAD Factor VIII Variant Database
Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



Search Results: 1 unique variant retrieved.


  c.248C>G
p.(Pro83Arg) (Legacy AA No.64)
Variant Type:
Point
Domain:
A1
Sequence Context:
CCA > CGA
Variant Effect:
Missense
Location:
Exon 2
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