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


  c.101A>T
p.(Asp34Val) (Legacy AA No.15)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GTC
Variant Effect:
Missense
Location:
Exon 1
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.102C>T
p.(Asp34Asp) (Legacy AA No.15)
Variant Type:
Polymorphism
Domain:
A1
Sequence Context:
GAC > GAT
Variant Effect:
Synonymous
Location:
Exon 1
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Polymorphism | Synonymous) of mutation at Exon 1
Individual Case Information : Show

  c.102C>G
p.(Asp34Glu) (Legacy AA No.15)
Variant Type:
Point
Domain:
A1
Sequence Context:
GAC > GAG
Variant Effect:
Missense
Location:
Exon 1
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