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


  c.6442A>G
p.(Asn2148Asp) (Legacy AA No.2129)
Variant Type:
Point
Domain:
C1
Sequence Context:
AAT > GAT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6443A>G
p.(Asn2148Ser) (Legacy AA No.2129)
Variant Type:
Point
Domain:
C1
Sequence Context:
AAT > AGT
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
20
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show