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


  c.6494C>T
p.(Ala2165Val) (Legacy AA No.2146)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCT > GTT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6494delC
p.(Ala2165Valfs*21) (Legacy AA No.2146)
Variant Type:
Deletion
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 23
No of bases:
1
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 23
Individual Case Information : Show