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

F8
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Search Results: 2 unique variants retrieved


  c.6658_6660delGCC
p.(Ala2220del) (Legacy AA No.2201)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 24
No of bases:
3
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 24
Individual Case Information : Show

  c.6658G>C
p.(Ala2220Pro) (Legacy AA No.2201)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCC > CCC
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
27
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show