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


  c.1930T>G
p.(Leu644Val) (Legacy AA No.625)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > GTG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1931T>C
p.(Leu644Ser) (Legacy AA No.625)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TCG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.1931T>G
p.(Leu644Trp) (Legacy AA No.625)
Variant Type:
Point
Domain:
A2
Sequence Context:
TTG > TGG
Variant Effect:
Missense
Location:
Exon 13
No of bases:
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