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


  c.6554T>C
p.(Leu2185Ser) (Legacy AA No.2166)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTG > TCG
Variant Effect:
Missense
Location:
Exon 23
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.6554T>G
p.(Leu2185Trp) (Legacy AA No.2166)
Variant Type:
Point
Domain:
C1
Sequence Context:
TTG > TGG
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show