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


  c.2019dupT
p.(Gly674Trpfs*11) (Legacy AA No.655)
Variant Type:
Duplication
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 13
No of bases:
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 13
Individual Case Information : Show

  c.2020G>T
p.(Gly674*) (Legacy AA No.655)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > TGA
Variant Effect:
Nonsense
Location:
Exon 13
No of bases:
1
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 13
Individual Case Information : Show

  c.2021G>C
p.(Gly674Ala) (Legacy AA No.655)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > GCA
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.2021G>A
p.(Gly674Glu) (Legacy AA No.655)
Variant Type:
Point
Domain:
A2
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 13
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