Protein level identifier (NP_001073136):
p.Tyr244*
cDNA level identifier (NM_001079668):
c.732C>A
Gene level identifier:
g.3398C>A
Archive identifier/Other designation:
c.642C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36986957 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
36
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).