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


  c.6295_6297delATT
p.(Ile2099del) (Legacy AA No.2080)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 22
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 22
Individual Case Information : Show

  c.6295_6296delAT
p.(Ile2099Tyrfs*26) (Legacy AA No.2080)
Variant Type:
Deletion
Domain:
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
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 22
Individual Case Information : Show

  c.6296T>A
p.(Ile2099Asn) (Legacy AA No.2080)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATT > AAT
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6296_6297delTT
p.(Ile2099Asnfs*26) (Legacy AA No.2080)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 22
Individual Case Information : Show