EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.6016G>A
p.(Glu2006Lys) (Legacy AA No.1987)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > AAA
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6016G>T
p.(Glu2006*) (Legacy AA No.1987)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > TAA
Variant Effect:
Nonsense
Location:
Exon 19
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 19
Individual Case Information : Show

  c.6018A>T
p.(Glu2006Asp) (Legacy AA No.1987)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAA > GAT
Variant Effect:
Missense
Location:
Exon 19
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show