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


  c.5167G>T
p.(Glu1723*) (Legacy AA No.1704)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 14
No of bases:
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 14
Individual Case Information : Show

  c.5167G>A
p.(Glu1723Lys) (Legacy AA No.1704)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show