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


  c.1207C>G
p.(His403Asp) (Legacy AA No.384)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAT > GAT
Variant Effect:
Missense
Location:
Exon 8
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.1208A>T
p.(His403Leu) (Legacy AA No.384)
Variant Type:
Point
Domain:
A2
Sequence Context:
CAT > CTT
Variant Effect:
Missense
Location:
Exon 8
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