EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.6823T>A
p.(Tyr2275Asn) (Legacy AA No.2256)
Variant Type:
Point
Domain:
C2
Sequence Context:
TAT > AAT
Variant Effect:
Missense
Location:
Exon 25
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.6823T>C
p.(Tyr2275His ) (Legacy AA No.2256)
Variant Type:
Point
Domain:
C2
Sequence Context:
TAT > CAT
Variant Effect:
Missense
Location:
Exon 25
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.6825delT
p.(Tyr2275*) (Legacy AA No.2256)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
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 (Deletion | Frameshift) of mutation at Exon 25
Individual Case Information : Show

  c.6825T>A
p.(Tyr2275*) (Legacy AA No.2256)
Variant Type:
Point
Domain:
C2
Sequence Context:
TAT > TAA
Variant Effect:
Nonsense
Location:
Exon 25
No of bases:
1
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 25
Individual Case Information : Show