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


  c.2077_2078delTCinsCT
p.(Ser693Leu) (Legacy AA No.674)
Variant Type:
Indel
Domain:
A2
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 13
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Indel | Inframe) of mutation at Exon 13
Individual Case Information : Show

  c.2078C>G
p.(Ser693*) (Legacy AA No.674)
Variant Type:
Point
Domain:
A2
Sequence Context:
Variant Effect:
Nonsense
Location:
Exon 13
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 (Point | Nonsense ) of mutation at Exon 13
Individual Case Information : Show

  c.2078C>T
p.(Ser693Leu) (Legacy AA No.674)
Variant Type:
Point
Domain:
A2
Sequence Context:
TCA > TTA
Variant Effect:
Missense
Location:
Exon 13
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