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


  c.766T>A
p.(Tyr256Asn) (Legacy AA No.237)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > AAT
Variant Effect:
Missense
Location:
Exon 6
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.768T>G
p.(Tyr256*) (Legacy AA No.237)
Variant Type:
Point
Domain:
A1
Sequence Context:
TAT > TAG
Variant Effect:
Nonsense
Location:
Exon 6
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 6
Individual Case Information : Show