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


  c.1897A>G
p.(Met633Val) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 12
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.1898T>C
p.(Met633Thr) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ACG
Variant Effect:
Missense
Location:
Exon 12
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.1899G>T
p.(Met633Ile) (Legacy AA No.614)
Variant Type:
Point
Domain:
A2
Sequence Context:
ATG > ATT
Variant Effect:
Missense
Location:
Exon 12
No of bases:
1
No. of cases reported:
9
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show