EAHAD Factor VIII Variant Database
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Search Results: 4 unique variants retrieved


  c.5911A>C
p.(Asn1971His) (Legacy AA No.1952)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAC > CAC
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5911A>T
p.(Asn1971Tyr) (Legacy AA No.1952)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAC > TAC
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5912A>G
p.(Asn1971Ser) (Legacy AA No.1952)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAC > AGC
Variant Effect:
Missense
Location:
Exon 18
No of bases:
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5912A>C
p.(Asn1971Thr) (Legacy AA No.1952)
Variant Type:
Point
Domain:
A3
Sequence Context:
AAC > ACC
Variant Effect:
Missense
Location:
Exon 18
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