Protein level identifier (n.a.):
p.Lys47*
cDNA level identifier (n.a.):
c.139A>T
Gene level identifier:
g.360A>T
Reference, alternative allele:
A, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
36
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).