RF Logo The European Association for Haemophilia and Allied Disorders Factor VII Variant Database EAHAD Coagulation Variant Databases

  Data Display Options:

UNIQUE (Without Case Data) :
EXCEL/CSV
SCREEN TABLE
MULTIPLE (With Case Data) :
EXCEL/CSV
SCREEN TABLE

  Search Results: 2 unique variants retrieved



  c.970C>T
p.(Gln324*) (Legacy AA No.305)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAG > TAG
Variant Effect:
Nonsense
Location:
Exon 7
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 | Nonsense) of mutation at Exon 7

Individual Case Information : Show


  c.971A>C
p.(Gln324Pro) (Legacy AA No.305)
Variant Type:
Point
Domain:
A1
Sequence Context:
CAG > CCG
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