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


  c.6970T>A
p.(Tyr2324Asn) (Legacy AA No.2305)
Variant Type:
Point
Domain:
C2
Sequence Context:
TAC > AAC
Variant Effect:
Missense
Location:
Exon 26
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6972C>G
p.(Tyr2324*) (Legacy AA No.2305)
Variant Type:
Point
Domain:
C2
Sequence Context:
TAC > TAG
Variant Effect:
Nonsense
Location:
Exon 26
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 26
Individual Case Information : Show