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

F8
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Search Results: 3 unique variants retrieved


  c.1915_1916delTA
p.(Tyr639Cysfs*3) (Legacy AA No.620)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
No of bases:
2
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 13
Individual Case Information : Show

  c.1916A>G
p.(Tyr639Cys) (Legacy AA No.620)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TGT
Variant Effect:
Missense
Location:
Exon 13
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

  c.1917T>A
p.(Tyr639*) (Legacy AA No.620)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 13
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 13
Individual Case Information : Show