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


  c.6785T>C
p.(Val2262Ala) (Legacy AA No.2243)
Variant Type:
Point
Domain:
C2
Sequence Context:
GTA > GCA
Variant Effect:
Missense
Location:
Exon 25
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6786_6787insCAA
p.(Val2262_Thr2263insGln) (Legacy AA No.2243)
Variant Type:
Insertion
Domain:
C2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 25
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 (Insertion | Inframe) of mutation at Exon 25
Individual Case Information : Show