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


  c.5710G>A
p.(Glu1904Lys) (Legacy AA No.1885)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5711A>G
p.(Glu1904Gly) (Legacy AA No.1885)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GGG
Variant Effect:
Missense
Location:
Exon 17
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.5712G>C
p.(Glu1904Asp) (Legacy AA No.1885)
Variant Type:
Point
Domain:
A3
Sequence Context:
GAG > GAC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show