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


  c.5374-1G>C
(Legacy AA No.1773)
Variant Type:
Point
Domain:
Sequence Context:
Variant Effect:
Splice
Location:
Intron 15
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 | Splice) of mutation at Intron 15
Individual Case Information : Show

  c.5374_5586del
p.(Val1792Glufs*490) (Legacy AA No.1773)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Large Deletion
Location:
Exon 16
No of bases:
0.21kb
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Large Deletion) of mutation at Exon 16
Individual Case Information : Show

  c.5374G>T
p.(Val1792Leu) (Legacy AA No.1773)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTA > TTA
Variant Effect:
Missense
Location:
Exon 16
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5375T>C
p.(Val1792Ala) (Legacy AA No.1773)
Variant Type:
Point
Domain:
A3
Sequence Context:
GTA > GCA
Variant Effect:
Missense
Location:
Exon 16
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show