Protein level identifier (NP_060575):
p.Arg172LysFs*7
cDNA level identifier (NM_018105):
c.514dupA
Gene level identifier:
g.5235dupA
Reference, alternative allele:
T, TT
Genomic location hg(19)
8:42693233 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
26
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).