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


  c.1033G>C
p.(Val345Leu) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > CTA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1033G>T
p.(Val345Leu) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > TTA
Variant Effect:
Missense
Location:
Exon 8
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

  c.1034T>C
p.(Val345Ala) (Legacy AA No.326)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GCA
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show