Protein level identifier (n.a.):
p.Glu125*
cDNA level identifier (n.a.):
c.373G>T
Gene level identifier:
g.594G>T
Reference, alternative allele:
G, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).