Protein level identifier (NP_001073136):
p.Ser199*
cDNA level identifier (NM_001079668):
c.596C>A
Gene level identifier:
g.3262C>A
Archive identifier/Other designation:
p.Ser169X
Reference, alternative allele:
G, T
Genomic location hg(19)
14:36987093 (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:
2 heterozygous (2 in total).