Protein level identifier (NP_001073136):
p.Ser217*
cDNA level identifier (NM_001079668):
c.650C>A
Gene level identifier:
g.3316C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36987039 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
38
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).