Protein level identifier (NP_001073136):
p.Tyr116*
cDNA level identifier (NM_001079668):
c.347dupA
Gene level identifier:
g.2049dupA
Reference, alternative allele:
G, GT
Genomic location hg(19)
14:36988304 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).