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


  c.5718dupA
p.(Ser1907Lysfs*5) (Legacy AA No.1888)
Variant Type:
Duplication
Domain:
A3
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 17
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 17
Individual Case Information : Show

  c.5719A>T
p.(Ser1907Cys) (Legacy AA No.1888)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > TGC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5720G>T
p.(Ser1907Ile) (Legacy AA No.1888)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > ATC
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.5721C>G
p.(Ser1907Arg) (Legacy AA No.1888)
Variant Type:
Point
Domain:
A3
Sequence Context:
AGC > AGG
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show