Protein level identifier (NP_001073136):
p.Ser175*
cDNA level identifier (NM_001079668):
c.524C>A
Gene level identifier:
g.3190C>A
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36987165 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Definitely pathogenic
CADD score:
37
Positive functional evidence:
not available
Number of all included cases:
4 heterozygous (4 in total).