Protein level identifier (n.a.):
p.Glu533*
cDNA level identifier (n.a.):
c.1597G>T
Gene level identifier:
g.79786G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
45
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).