Protein level identifier (NP_060575):
p.Ile116Metfs*4
cDNA level identifier (NM_018105):
c.348delT
Gene level identifier:
g.5070delT
Reference, alternative allele:
AA, A
Genomic location hg(19)
8:42693399 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
27
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).