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


  c.6685C>T
p.(Leu2229Phe) (Legacy AA No.2210)
Variant Type:
Point
Domain:
C2
Sequence Context:
CTT > TTT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
17
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6686T>C
p.(Leu2229Pro) (Legacy AA No.2210)
Variant Type:
Point
Domain:
C2
Sequence Context:
CTT > CCT
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
13
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show