EAHAD Factor VIII Variant Database
Data Display Options:
UNIQUE (Without Case Data) :
MULTIPLE (With Case Data) :



Search Results: 3 unique variants retrieved


  c.982T>G
p.(Phe328Leu) (Legacy AA No.309)
Variant Type:
Point
Domain:
A1
Sequence Context:
TTT > TTG
Variant Effect:
Missense
Location:
Exon 7
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.984T>G
p.(Phe328Leu) (Legacy AA No.309)
Variant Type:
Point
Domain:
A1
Sequence Context:
TTT > TTG
Variant Effect:
Missense
Location:
Exon 7
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.984delT
p.(Phe328Phefs*18) (Legacy AA No.309)
Variant Type:
Deletion
Domain:
A1
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 7
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 7
Individual Case Information : Show