EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


 
(Legacy AA No.1721)
Variant Type:
Deletion
Domain:
Sequence Context:
Variant Effect:
Large Deletion
Location:
Exon 14-16
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 (Deletion | Large Deletion) of mutation at Exon 14-16
Individual Case Information : Show

  c.5218A>G
p.(Arg1740Gly) (Legacy AA No.1721)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGG > GGG
Variant Effect:
Missense
Location:
Exon 14
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

  c.5219+2T>C
(Legacy AA No.1721)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 14
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 14
Individual Case Information : Show

  c.5219G>T
p.(Arg1740Met) (Legacy AA No.1721)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGG > ATG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5220-2A>T
(Legacy AA No.1721)
Variant Type:
Point
Domain:
A3
Sequence Context:
Variant Effect:
Splice
Location:
Intron 14
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Splice) of mutation at Intron 14
Individual Case Information : Show