Protein level identifier (NP_001073136):
p.Arg195Glyfs*33
cDNA level identifier (NM_001079668):
c.583delC
Gene level identifier:
g.3249delC
Archive identifier/Other designation:
p.Arg165Glyfs*32
Reference, alternative allele:
CG, C
Genomic location hg(19)
14:36987105 (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:
5 heterozygous (5 in total).