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


  c.5323T>G
p.(Leu1775Val) (Legacy AA No.1756)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTG > GTG
Variant Effect:
Missense
Location:
Exon 15
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

  c.5324T>C
p.(Leu1775Ser) (Legacy AA No.1756)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTG > TCG
Variant Effect:
Missense
Location:
Exon 15
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.5325G>C
p.(Leu1775Phe) (Legacy AA No.1756)
Variant Type:
Point
Domain:
A3
Sequence Context:
TTG > TTC
Variant Effect:
Missense
Location:
Exon 15
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show