Protein level identifier (NP_060575):
p.Thr138Metfs*15
cDNA level identifier (NM_018105):
c.413delC
Gene level identifier:
g.5135delC
Reference, alternative allele:
AG, A
Genomic location hg(19)
8:42693333 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).