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


  c.6208G>C
p.(Ala2070Pro) (Legacy AA No.2051)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > CCC
Variant Effect:
Missense
Location:
Exon 21
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.6208G>A
p.(Ala2070Thr) (Legacy AA No.2051)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > ACC
Variant Effect:
Missense
Location:
Exon 21
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6209C>T
p.(Ala2070Val) (Legacy AA No.2051)
Variant Type:
Point
Domain:
C1
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon 21
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