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


  c.6089dupG
p.(Ser2030Argfs*9) (Legacy AA No.2011)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 19
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of mutation at Exon 19
Individual Case Information : Show

  c.6089G>A
p.(Ser2030Asn) (Legacy AA No.2011)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > AAC
Variant Effect:
Missense
Location:
Exon 19
No of bases:
1
No. of cases reported:
63
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show