EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.1807A>T
p.(Ser603Cys) (Legacy AA No.584)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > TGC
Variant Effect:
Missense
Location:
Exon 12
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1807A>G
p.(Ser603Gly) (Legacy AA No.584)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > GGC
Variant Effect:
Missense
Location:
Exon 12
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.1808G>T
p.(Ser603Ile) (Legacy AA No.584)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > ATC
Variant Effect:
Missense
Location:
Exon 12
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.1808G>C
p.(Ser603Thr) (Legacy AA No.584)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > ACC
Variant Effect:
Missense
Location:
Exon 12
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.1809C>G
p.(Ser603Arg) (Legacy AA No.584)
Variant Type:
Point
Domain:
A2
Sequence Context:
AGC > AGG
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show