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


  c.1909A>G
p.(Asn637Asp) (Legacy AA No.618)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAT > GAT
Variant Effect:
Missense
Location:
Exon 13
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.1910A>T
p.(Asn637Ile) (Legacy AA No.618)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAT > ATT
Variant Effect:
Missense
Location:
Exon 13
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.1910A>G
p.(Asn637Ser) (Legacy AA No.618)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAT > AGT
Variant Effect:
Missense
Location:
Exon 13
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show