EAHAD Factor VIII Variant Database
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Search Results: 3 unique variants retrieved


  c.541G>A
p.(Val181Met) (Legacy AA No.162)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > ATG
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
60
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.541_575del
p.(Val181Trpfs*7) (Legacy AA No.162)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 4
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 | Frameshift) of mutation at Exon 4
Individual Case Information : Show

  c.542T>A
p.(Val181Glu) (Legacy AA No.162)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTG > GAG
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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