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


  c.829A>T
p.(Ile277Phe) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > TTT
Variant Effect:
Missense
Location:
Exon 7
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.829A>G
p.(Ile277Val) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > GTT
Variant Effect:
Missense
Location:
Exon 7
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.830T>G
p.(Ile277Ser ) (Legacy AA No.258)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > AGT
Variant Effect:
Missense
Location:
Exon 7
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