EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.5988dupT
p.(Leu1997Serfs*7) (Legacy AA No.1978)
Variant Type:
Duplication
Domain:
C1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 18
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 (Duplication | Frameshift) of mutation at Exon 18
Individual Case Information : Show

  c.5989C>T
p.(Leu1997Phe) (Legacy AA No.1978)
Variant Type:
Point
Domain:
A3
Sequence Context:
CTC > TTC
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