Protein level identifier (n.a.):
p.Arg581*
cDNA level identifier (n.a.):
c.1741C>T
Gene level identifier:
g.90776C>T
Reference, alternative allele:
C, T
Genomic location
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
39
Positive functional evidence:
not available
Number of all included cases:
21 heterozygous (21 in total).