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


  c.6515C>G
p.(Pro2172Arg) (Legacy AA No.2153)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCA > CGA
Variant Effect:
Missense
Location:
Exon 23
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.6515C>A
p.(Pro2172Gln) (Legacy AA No.2153)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCA > CAA
Variant Effect:
Missense
Location:
Exon 23
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.6515C>T
p.(Pro2172Leu) (Legacy AA No.2153)
Variant Type:
Point
Domain:
C1
Sequence Context:
CCA > CTA
Variant Effect:
Missense
Location:
Exon 23
No of bases:
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