EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.6348_6349dupCA
p.(Ile2117Thrfs*26) (Legacy AA No.2098)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 22
No of bases:
2
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.6349A>T
p.(Ile2117Phe) (Legacy AA No.2098)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATC > TTC
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.6350T>G
p.(Ile2117Ser) (Legacy AA No.2098)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATC > AGC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show