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


  c.5815G>C
p.(Ala1939Pro) (Legacy AA No.1920)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCA > CCA
Variant Effect:
Missense
Location:
Exon 17
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5815G>T
p.(Ala1939Ser) (Legacy AA No.1920)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Exon 17
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 | Splice) of mutation at Exon 17
Individual Case Information : Show

  c.5815G>A
p.(Ala1939Thr) (Legacy AA No.1920)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCA > ACA
Variant Effect:
Missense
Location:
Exon 17
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

  c.5816C>A
p.(Ala1939Glu) (Legacy AA No.1920)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCA > GAA
Variant Effect:
Missense
Location:
Exon 18
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

  c.5816C>T
p.(Ala1939Val) (Legacy AA No.1920)
Variant Type:
Point
Domain:
A3
Sequence Context:
GCA > GTA
Variant Effect:
Missense
Location:
Exon 18
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