Protein level identifier (n.a.):
p.Arg583*
cDNA level identifier (n.a.):
c.1747C>T
Gene level identifier:
g.315538C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
not available
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Possibly pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).