Protein level identifier (NP_001073136):
p.Trp143*
cDNA level identifier (NM_001079668):
c.428G>A
Gene level identifier:
g.2130G>A
Archive identifier/Other designation:
p.Trp113X
Reference, alternative allele:
C, T
Genomic location hg(19)
14:36988225 (not available on ExAC)
Gene name:
Consequence:
nonsense
Pathogenicity scoring:
Probably pathogenic
CADD score:
40
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).