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


  c.6049G>A
p.(Val2017Met) (Legacy AA No.1998)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6049delG
p.(Val2017Trpfs*13) (Legacy AA No.1998)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 19
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 19
Individual Case Information : Show