EAHAD Factor VIII Variant Database
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Search Results: 5 unique variants retrieved


  c.589_591delGTA
p.(Val197del) (Legacy AA No.178)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Inframe
Location:
Exon 4
No of bases:
3
No. of cases reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Inframe) of mutation at Exon 4
Individual Case Information : Show

  c.589G>C
p.(Val197Leu) (Legacy AA No.178)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > CTA
Variant Effect:
Missense
Location:
Exon 4
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.590T>C
p.(Val197Ala) (Legacy AA No.178)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GCA
Variant Effect:
Missense
Location:
Exon 4
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

  c.590T>G
p.(Val197Gly) (Legacy AA No.178)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GGA
Variant Effect:
Missense
Location:
Exon 4
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.590T>G
p.(Val197Gly) (Legacy AA No.178)
Variant Type:
Point
Domain:
A1
Sequence Context:
GTA > GGA
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
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