EAHAD Factor VIII Variant Database
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Factor VIII Gene (F8) Variant Database  

F8
Data Display Options:
UNIQUE (Without Case Data) :
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SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE



Search Results: 2 unique variants retrieved


  c.1474T>C
p.(Tyr492His) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
26
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1475A>G
p.(Tyr492Cys) (Legacy AA No.473)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 10
No of bases:
1
No. of cases reported:
15
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show