Protein level identifier (NP_000152):
p.Arg216*
cDNA level identifier (NM_000161):
c.646C>T
Gene level identifier:
g.58729C>T
Reference, alternative allele:
G, A
Genomic location hg(0)
14:55310842 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
46
Positive functional evidence:
not available
Number of all included cases:
5 heterozygous (5 in total).