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


  c.5187delG
p.(Met1730*) (Legacy AA No.1711)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
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 (Deletion | Frameshift) of mutation at Exon 14
Individual Case Information : Show

  c.5188A>G
p.(Met1730Val) (Legacy AA No.1711)
Variant Type:
Point
Domain:
A3
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show