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


  c.6268A>C
p.(Ile2090Leu) (Legacy AA No.2071)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATC > CTC
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6269T>A
p.(Ile2090Asn) (Legacy AA No.2071)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATC > AAC
Variant Effect:
Missense
Location:
Exon 21
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.6269T>C
p.(Ile2090Thr) (Legacy AA No.2071)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATC > ACC
Variant Effect:
Missense
Location:
Exon 21
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