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



Search Results: 3 unique variants retrieved


  c.6193T>C
p.(Trp2065Arg) (Legacy AA No.2046)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > CGG
Variant Effect:
Missense
Location:
Exon 21
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.6194G>A
p.(Trp2065*) (Legacy AA No.2046)
Variant Type:
Point
Domain:
C1
Sequence Context:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon 21
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 21
Individual Case Information : Show

  c.6195G>C
p.(Trp2065Cys ) (Legacy AA No.2046)
Variant Type:
Point
Domain:
C1
Sequence Context:
Variant Effect:
Missense
Location:
Exon 21
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 (Point | Missense ) of mutation at Exon 21
Individual Case Information : Show