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



Search Results: 2 unique variants retrieved


  c.6151A>T
p.(Ile2051Phe) (Legacy AA No.2032)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 19
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.6152T>G
p.(Ile2051Ser) (Legacy AA No.2032)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATT > AGT
Variant Effect:
Missense
Location:
Exon 20
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