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


  c.1015A>G
p.(Met339Val) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 8
No of bases:
1
No. of cases reported:
10
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1016T>C
p.(Met339Thr) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 8
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.1017G>A
p.(Met339Ile) (Legacy AA No.320)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 8
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.1017_1024del
p.(Met339Ilefs*18) (Legacy AA No.320)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 8
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 8
Individual Case Information : Show