Protein level identifier (NP_060575):
p.Gln154Serfs*27
cDNA level identifier (NM_018105):
c.460delC
Gene level identifier:
g.5182delC
Reference, alternative allele:
TG, T
Genomic location hg(19)
8:42693286 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
24
Positive functional evidence:
not available
Number of all included cases:
6 heterozygous (6 in total).