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


  c.683A>G
p.(His228Arg) (Legacy AA No.209)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > CGC
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.683A>T
p.(His228Leu) (Legacy AA No.209)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAC > CTC
Variant Effect:
Missense
Location:
Exon 6
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.684_685delCT
p.(His228Hisfs*11) (Legacy AA No.209)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 6
No of bases:
2
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 6
Individual Case Information : Show