EAHAD Factor VIII Variant Database
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Search Results: 2 unique variants retrieved


  c.562A>T
p.(Asn188Tyr) (Legacy AA No.169)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > TAT
Variant Effect:
Missense
Location:
Exon 4
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.564T>A
p.(Asn188Lys) (Legacy AA No.169)
Variant Type:
Point
Domain:
A1
Sequence Context:
AAT > AAA
Variant Effect:
Missense
Location:
Exon 4
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