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


  c.1801A>G
p.(Asn601Asp) (Legacy AA No.582)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > GAC
Variant Effect:
Missense
Location:
Exon 12
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.1802A>C
p.(Asn601Thr) (Legacy AA No.582)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > ACC
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.1803C>G
p.(Asn601Lys) (Legacy AA No.582)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > AAG
Variant Effect:
Missense
Location:
Exon 12
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.1803C>A
p.(Asn601Lys) (Legacy AA No.582)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAC > AAA
Variant Effect:
Missense
Location:
Exon 12
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