EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.1483T>G
p.(Tyr495Asp) (Legacy AA No.476)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > GAC
Variant Effect:
Missense
Location:
Exon 10
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1485C>G
p.(Tyr495*) (Legacy AA No.476)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAG
Variant Effect:
Nonsense
Location:
Exon 10
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 10
Individual Case Information : Show