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


  c.1348T>A
p.(Tyr450Asn) (Legacy AA No.431)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > AAC
Variant Effect:
Missense
Location:
Exon 9
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.1348T>G
p.(Tyr450Asp) (Legacy AA No.431)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > GAC
Variant Effect:
Missense
Location:
Exon 9
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.1349A>G
p.(Tyr450Cys) (Legacy AA No.431)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TGC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show