EAHAD Factor VIII Variant Database
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Search Results: 6 unique variants retrieved


  c.2161A>C
p.(Met721Leu) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > CTG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2161A>T
p.(Met721Leu) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > TTG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2161A>G
p.(Met721Val) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > GTG
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.2162T>C
p.(Met721Thr) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 14
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.2163G>C
p.(Met721Ile) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATC
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.2163G>A
p.(Met721Ile) (Legacy AA No.702)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATA
Variant Effect:
Missense
Location:
Exon 14
No of bases:
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