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


  c.7021G>T
p.(Glu2341*) (Legacy AA No.2322)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 26
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 (Point | Nonsense) of mutation at Exon 26
Individual Case Information : Show

  c.7021G>A
p.(Glu2341Lys) (Legacy AA No.2322)
Variant Type:
Point
Domain:
C2
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show