EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.6165_6166dupGA
p.(Ile2056Argfs*40) (Legacy AA No.2037)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 20
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 20
Individual Case Information : Show

  c.6167T>A
p.(Ile2056Asn) (Legacy AA No.2037)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATT > AAT
Variant Effect:
Missense
Location:
Exon 20
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show