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


  c.5941G>C
p.(Val1981Leu) (Legacy AA No.1962)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > CTG
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.5941G>A
p.(Val1981Met) (Legacy AA No.1962)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
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