Protein level identifier (n.a.):
p.Gly419*
cDNA level identifier (n.a.):
c.1255G>T
Gene level identifier:
g.72962G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
41
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).