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


  c.685T>C
p.(Ser229Pro) (Legacy AA No.210)
Variant Type:
Point
Domain:
A1
Sequence Context:
TCA > CCA
Variant Effect:
Missense
Location:
Exon 6
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.686C>G
p.(Ser229*) (Legacy AA No.210)
Variant Type:
Point
Domain:
A1
Sequence Context:
Variant Effect:
Nonsense
Location:
Exon 6
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 | Nonsense ) of mutation at Exon 6
Individual Case Information : Show

  c.687_688delAG
p.(Ser229Serfs*10) (Legacy AA No.210)
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