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


  c.6301C>G
p.(His2101Asp) (Legacy AA No.2082)
Variant Type:
Point
Domain:
C1
Sequence Context:
CAC > GAC
Variant Effect:
Missense
Location:
Exon 22
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.6302A>G
p.(His2101Arg) (Legacy AA No.2082)
Variant Type:
Point
Domain:
C1
Sequence Context:
CAC > CGC
Variant Effect:
Missense
Location:
Exon 22
No of bases:
No. of cases reported:
7
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show