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


  c.5182T>C
p.(Tyr1728His) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 14
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.5183A>G
p.(Tyr1728Cys) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5184T>A
p.(Tyr1728*) (Legacy AA No.1709)
Variant Type:
Point
Domain:
A3
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 14
No of bases:
1
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 14
Individual Case Information : Show