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


  c.6796G>A
p.(Gly2266Arg) (Legacy AA No.2247)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > AGA
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6797G>A
p.(Gly2266Glu) (Legacy AA No.2247)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > GAA
Variant Effect:
Missense
Location:
Exon 25
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Individual Case Information : Show

  c.6797delG
p.(Gly2266Glufs*2) (Legacy AA No.2247)
Variant Type:
Deletion
Domain:
C2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 25
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 (Deletion | Frameshift) of mutation at Exon 25
Individual Case Information : Show

  c.6797G>T
p.(Gly2266Val ) (Legacy AA No.2247)
Variant Type:
Point
Domain:
C2
Sequence Context:
GGA > GTA
Variant Effect:
Missense
Location:
Exon 25
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