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


  c.1660A>T
p.(Ser554Cys) (Legacy AA No.535)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGT > TGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1660A>G
p.(Ser554Gly) (Legacy AA No.535)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGT > GGT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
60
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1661G>A
p.(Ser554Asn) (Legacy AA No.535)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGT > AAT
Variant Effect:
Missense
Location:
Exon 11
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show