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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MULTIPLE (With Case Data) :
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SCREEN TABLE



Search Results: 3 unique variants retrieved

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  c.1093T>C
p.(Tyr365His) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 8
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

  c.1094A>G
p.(Tyr365Cys) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
97
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.1095T>G
p.(Tyr365*) (Legacy AA No.346)
Variant Type:
Point
Domain:
a1
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 8
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 8
Individual Case Information : Show
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