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


  c.2167G>A
p.(Ala723Thr) (Legacy AA No.704)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCC > ACC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
144
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2168C>A
p.(Ala723Asp) (Legacy AA No.704)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCC > GAC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2168C>T
p.(Ala723Val) (Legacy AA No.704)
Variant Type:
Point
Domain:
A2
Sequence Context:
GCC > GTC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
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