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: 3 unique variants retrieved

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  c.1834C>T
p.(Arg612Cys) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > TGC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
242
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1835G>A
p.(Arg612His) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CAC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
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

  c.1835G>C
p.(Arg612Pro) (Legacy AA No.593)
Variant Type:
Point
Domain:
A2
Sequence Context:
CGC > CCC
Variant Effect:
Missense
Location:
Exon 12
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
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