EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.979C>G
p.(Leu327Val) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > GTG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.980T>G
p.(Leu327Arg) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CGG
Variant Effect:
Missense
Location:
Exon 7
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.980T>A
p.(Leu327Gln) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CAG
Variant Effect:
Missense
Location:
Exon 7
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.980T>C
p.(Leu327Pro) (Legacy AA No.308)
Variant Type:
Point
Domain:
A1
Sequence Context:
CTG > CCG
Variant Effect:
Missense
Location:
Exon 7
No of bases:
1
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