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


  c.5419A>G
p.(Ser1807Gly) (Legacy AA No.1788)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > GGC
Variant Effect:
Missense
Location:
Exon 16
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.5420G>C
p.(Ser1807Thr) (Legacy AA No.1788)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > ACC
Variant Effect:
Missense
Location:
Exon 16
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.5421C>G
p.(Ser1807Arg) (Legacy AA No.1788)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > AGG
Variant Effect:
Missense
Location:
Exon 16
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