Protein level identifier (NP_001073136):
p.Ser163Argfs*3
cDNA level identifier (NM_001079668):
c.489delC
Gene level identifier:
g.3155delC
Archive identifier/Other designation:
c.399delC
Reference, alternative allele:
CG, C
Genomic location hg(19)
14:36987199 (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).