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


  c.1396G>A
p.(Gly466Arg) (Legacy AA No.447)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 9
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.1397G>C
p.(Gly466Ala) (Legacy AA No.447)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > GCA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
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

  c.1397G>A
p.(Gly466Glu) (Legacy AA No.447)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 9
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