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


  c.6682C>T
p.(Arg2228*) (Legacy AA No.2209)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon 24
No of bases:
1
No. of cases reported:
57
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 24
Individual Case Information : Show

  c.6682C>G
p.(Arg2228Gly) (Legacy AA No.2209)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > GGA
Variant Effect:
Missense
Location:
Exon 24
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.6683G>A
p.(Arg2228Gln) (Legacy AA No.2209)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon 24
No of bases:
1
No. of cases reported:
57
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Please click to see if there is the available information.
Individual Case Information : Show

  c.6683G>T
p.(Arg2228Leu) (Legacy AA No.2209)
Variant Type:
Point
Domain:
C2
Sequence Context:
CGA > CTA
Variant Effect:
Missense
Location:
Exon 24
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