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



Search Results: 2 unique variants retrieved


  c.5926C>G
p.(His1976Asp ) (Legacy AA No.1957)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > GAT
Variant Effect:
Missense
Location:
Exon 18
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.5927A>G
p.(His1976Arg) (Legacy AA No.1957)
Variant Type:
Point
Domain:
A3
Sequence Context:
CAT > CGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
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