Search Results: 1 unique variant retrieved.



Terms with a '*' next to them are explained on the Help Page .

  c.1108A>T
p.Lys370* (Legacy AA No. 330)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Nonsense
Codon Change: 
A>T
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-

References and Comments:

Pavlova et al 2015

Patient Information: Show


Structural Interpretation:

Structural analysis cannot be performed on this (Point | Nonsense) variant.




Factor X Variant Database