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


  c.6790A>G
p.(Thr2264Ala) (Legacy AA No.2245)
Variant Type:
Point
Domain:
C2
Sequence Context:
ACT > GCT
Variant Effect:
Missense
Location:
Exon 25
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

  c.6790_6793dupACTA
p.(Thr2264Asnfs*89) (Legacy AA No.2245)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
No of bases:
4
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 25
Individual Case Information : Show