EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.6678delA
p.(Ala2227Leufs*16) (Legacy AA No.2208)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 24
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 (Deletion | Frameshift) of mutation at Exon 24
Individual Case Information : Show

  c.6679G>C
p.(Ala2227Pro) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > CCT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
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.6679G>A
p.(Ala2227Thr) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > ACT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6680C>T
p.(Ala2227Val) (Legacy AA No.2208)
Variant Type:
Point
Domain:
C2
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
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