EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.6550G>T
p.(Glu2184*) (Legacy AA No.2165)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAG > TAG
Variant Effect:
Nonsense
Location:
Exon 23
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 23
Individual Case Information : Show

  c.6550G>A
p.(Glu2184Lys) (Legacy AA No.2165)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 23
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

  c.6551A>C
p.(Glu2184Ala) (Legacy AA No.2165)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAG > GCG
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6551A>G
p.(Glu2184Gly) (Legacy AA No.2165)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAG > GGG
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6551A>T
p.(Glu2184Val) (Legacy AA No.2165)
Variant Type:
Point
Domain:
C1
Sequence Context:
GAG > GTG
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
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