EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.385G>A
p.(Glu129Lys) (Legacy AA No.110)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > AAG
Variant Effect:
Missense
Location:
Exon 3
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.386A>T
p.(Glu129Val) (Legacy AA No.110)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > GTG
Variant Effect:
Missense
Location:
Exon 3
No of bases:
1
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

  c.387G>C
p.(Glu129Asp) (Legacy AA No.110)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > GAC
Variant Effect:
Missense
Location:
Exon 3
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

  c.387G>T
p.(Glu129Asp) (Legacy AA No.110)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAG > GAT
Variant Effect:
Missense
Location:
Exon 3
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