Protein level identifier (NP_060575):
p.Lys158Asnfs*23
cDNA level identifier (NM_018105):
c.474delA
Gene level identifier:
g.5196delA
Reference, alternative allele:
GT, G
Genomic location hg(19)
8:42693273 (not available on ExAC)
Gene name:
Consequence:
frameshift
Pathogenicity scoring:
Probably pathogenic
CADD score:
34
Positive functional evidence:
not available
Number of all included cases:
3 heterozygous (3 in total).