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


  c.6955C>T
p.(Pro2319Ser) (Legacy AA No.2300)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCG > TCG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6956C>G
p.(Pro2319Arg) (Legacy AA No.2300)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCG > CGG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6956C>T
p.(Pro2319Leu) (Legacy AA No.2300)
Variant Type:
Point
Domain:
C2
Sequence Context:
CCG > CTG
Variant Effect:
Missense
Location:
Exon 26
No of bases:
1
No. of cases reported:
48
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show