EAHAD Factor VIII Variant Database
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Search Results: 7 unique variants retrieved


  c.5821A>G
p.(Asn1941Asp) (Legacy AA No.1922)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > GAT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5821_5822delAA
p.(Asn1941Trpfs*29) (Legacy AA No.1922)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 18
Individual Case Information : Show

  c.5822A>T
p.(Asn1941Ile) (Legacy AA No.1922)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > ATT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5822A>G
p.(Asn1941Ser) (Legacy AA No.1922)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > AGT
Variant Effect:
Missense
Location:
Exon 18
No of bases:
1
No. of cases reported:
67
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5822A>C
p.(Asn1941Thr) (Legacy AA No.1922)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > ACT
Variant Effect:
Missense
Location:
Exon 18
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.5823T>A
p.(Asn1941Lys) (Legacy AA No.1922)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAT > AAA
Variant Effect:
Missense
Location:
Exon 18
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.5823delT
p.(Asn1941Lysfs*4) (Legacy AA No.1922)
Variant Type:
Deletion
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 18
Individual Case Information : Show