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

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



Search Results: 3 unique variants retrieved


  c.6103G>A
p.(Val2035Met) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6104T>G
p.(Val2035Gly) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > GGG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6104T>C
p.(Val2035Ala) (Legacy AA No.2016)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > GCG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
38
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show