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


  c.7006dupA
p.(Ile2336Asnfs*48) (Legacy AA No.2317)
Variant Type:
Duplication
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
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 (Duplication | Frameshift) of mutation at Exon 25
Individual Case Information : Show

  c.7006A>T
p.(Ile2336Phe) (Legacy AA No.2317)
Variant Type:
Point
Domain:
C2
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 26
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