Protein level identifier (NP_000152):
p.Ser114*
cDNA level identifier (NM_000161):
c.341C>A
Gene level identifier:
g.530C>A
Reference, alternative allele:
G, T
Genomic location hg(0)
14:55369041 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
37
Number of all included cases:
9 heterozygous (9 in total).