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: 1 unique variant retrieved.



  c.575T>C
p.(Ile192Thr) (Legacy AA No.173)
Variant Type:
Point
Domain:
A1
Sequence Context:
ATT > ACT
Variant Effect:
Missense
Location:
Exon 4
No of bases:
1
No. of cases reported:
11
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show