Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1066C>T
p.Gln356* (Legacy AA No. 316)
Variant Type: 
Point
Domain: 
Serine protease
Location: 
Exon 8
Variant Effect: 
Nonsense
Codon Change: 
C>T
No. of Patients Reported: 
1
Phenotype: 
U
Allele Count *: 
-
Allele Number *: 
-
Allele Frequency *: 
-
References and Comments:
Mota et al 2010Legacy cDNA numbering in paper - unknown origin (c.1069C>T)