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


  c.5723G>A
p.(Trp1908*) (Legacy AA No.1889)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 17
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 17
Individual Case Information : Show

  c.5723delGinsCATCAAAGTACTTCAAAAA
p.(Trp1908delinsSerSerLysTyrPheLysLys) (Legacy AA No.1889)
Variant Type:
Indel
Domain:
A3
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 17
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Indel | Inframe) of mutation at Exon 17
Individual Case Information : Show

  c.5723G>T
p.(Trp1908Leu) (Legacy AA No.1889)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TTG
Variant Effect:
Missense
Location:
Exon 17
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.5724G>A
p.(Trp1908*) (Legacy AA No.1889)
Variant Type:
Point
Domain:
A3
Sequence Context:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon 17
No of bases:
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 17
Individual Case Information : Show