Protein level identifier (NP_001073136):
p.Ala306Argfs*75
cDNA level identifier (NM_001079668):
c.915delC
Gene level identifier:
g.3581delC
Archive identifier/Other designation:
825delC
Reference, alternative allele:
CG, C
Genomic location hg(19)
14:36986773 (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).