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


  c.6312dupG
p.(Thr2105Aspfs*21) (Legacy AA No.2086)
Variant Type:
Duplication
Domain:
C1
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 (Duplication | Frameshift) of mutation at Exon 22
Individual Case Information : Show

  c.6313A>G
p.(Thr2105Ala) (Legacy AA No.2086)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACC > GCC
Variant Effect:
Missense
Location:
Exon 22
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.6314C>A
p.(Thr2105Asn) (Legacy AA No.2086)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACC > AAC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
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.6314C>T
p.(Thr2105Ile) (Legacy AA No.2086)
Variant Type:
Point
Domain:
C1
Sequence Context:
ACC > ATC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show