Protein level identifier (NP_060575):
p.Phe58Leufs*15
cDNA level identifier (NM_018105):
c.174delT
Gene level identifier:
g.4047delT
Reference, alternative allele:
TA, T
Genomic location hg(19)
8:42694421 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
28
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).