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


  c.5530C>T
p.(Pro1844Ser) (Legacy AA No.1825)
Variant Type:
Point
Domain:
A3
Sequence Context:
CCC > TCC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5531C>A
p.(Pro1844His) (Legacy AA No.1825)
Variant Type:
Point
Domain:
A3
Sequence Context:
CCC > CAC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5531C>T
p.(Pro1844Leu) (Legacy AA No.1825)
Variant Type:
Point
Domain:
A3
Sequence Context:
CCC > CTC
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show