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


  c.2158G>T
p.(Gly720Cys) (Legacy AA No.701)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > TGC
Variant Effect:
Missense
Location:
Exon 14
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.2158G>A
p.(Gly720Ser) (Legacy AA No.701)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > AGC
Variant Effect:
Missense
Location:
Exon 14
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.2159G>C
p.(Gly720Ala) (Legacy AA No.701)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > GCC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
5
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2159G>A
p.(Gly720Asp) (Legacy AA No.701)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show