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.6547A>G
p.(Met2183Val) (Legacy AA No.2164)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATG > GTG
Variant Effect:
Missense
Location:
Exon 23
No of bases:
1
No. of cases reported:
6
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show


  c.6548T>G
p.(Met2183Arg) (Legacy AA No.2164)
Variant Type:
Point
Domain:
C1
Sequence Context:
ATG > AGG
Variant Effect:
Missense
Location:
Exon 23
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