Protein level identifier (n.a.):
p.Cys1369*
cDNA level identifier (n.a.):
c.4107T>A
Gene level identifier:
g.362395T>A
Reference, alternative allele:
A, T
Genomic location hg(0)
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).