Search Results: 1 unique variant retrieved.
Terms with a '*' next to them are explained on the Help Page .
c.1231C>T
p.Gln411* (Legacy AA No. 371)
Variant Type:
Point
Domain:
Serine protease
Location:
Exon 8
Variant Effect:
Nonsense
Codon Change:
C>T
No. of Patients Reported:
1
Phenotype:
I
Allele Count *:
-
Allele Number *:
-
Allele Frequency *:
-
References and Comments:
Mitchell et al 2019Premature chain termination.