Protein level identifier (n.a.):
p.Glu112*
cDNA level identifier (n.a.):
c.334G>T
Gene level identifier:
g.555G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
36
Positive functional evidence:
not available
Number of all included cases:
25 heterozygous (25 in total).