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.1483T>G
p.(Tyr495Asp) (Legacy AA No.476)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > GAC
Variant Effect:
Missense
Location:
Exon 10
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.1485C>G
p.(Tyr495*) (Legacy AA No.476)
Variant Type:
Point
Domain:
A2
Sequence Context:
TAC > TAG
Variant Effect:
Nonsense
Location:
Exon 10
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of mutation at Exon 10

Individual Case Information : Show