Protein level identifier (NP_060575):
p. Asp191Thrfs*9
cDNA level identifier (NM_018105):
c.570delA
Gene level identifier:
g.5292_5292delA
Reference, alternative allele:
CT, C
Genomic location hg(19)
8:42693176 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
32
Positive functional evidence:
not available
Number of all included cases:
1 heterozygous (1 in total).